Lazaridis et al. (2018) , as summarized by  Fregel (2021) , contested the conclusion of  Loosdrecht et al. (2018)  and argued instead that the  Iberomaurusian  population of  Upper Paleolithic North Africa , represented by the  Taforalt  sample, can be better modeled as an admixture between a Dzudzuana-like [West-Eurasian] component and an "Ancient North African" component, "that may represent an even earlier split than the  Basal Eurasians ."  Lazaridis et al. (2018)  also argued that an Iberomaurusian/Taforalt-like population contributed to the genetic composition of Natufians "and not the other way around", and that this Iberomaurusian/Taforalt lineage also contributed around 13% ancestry to modern West Africans "rather than Taforalt having ancestry from an unknown Sub-Saharan African source".  Fregel (2021)  summarized: "More evidence will be needed to determine the specific origin of the North African Upper Paleolithic populations." [ 59 ] [ 60 ]


A 2018 study analyzed 22 out of the 600 people who were buried in  Peki'in  cave from the  Chalcolithic  Period, and found out these individuals harbored both local  Levantine  as well as  Anatolian  and  Zagros -related ancestries. This group has peculiar  phenotypical  characteristics unseen in earlier Levantines, such as blue eyes. [ 62 ]


A 2020 study published in  Cell  analyzed human remains from Chalcolithic  Amuq valley  as well as  Bronze Age  cities of  Ebla  and  Alalakh  in the Levant. The Chalcolithic inhabitants of Tell Kurdu in Amuq valley were modeled as a mixture of Neolithic Levantine, Anatolian and Zagros-related ancestries. On the other hand, the inhabitants of Ebla and Alalakh required additional Chalcolithic-era Iranian and Southern Levantine ancestry next to their Chalcolithic Amuq valley, implying additional input during the Late Chalcolithic–Early Bronze Age transition. [ 63 ]  The origins of the Bronze Age groups in the Amuq valley remain debated, despite numerous designations at the time (e.g.,  Amorites ,  Hurrians ,  Palaeo-Syrians ). One hypothesis associates the arrival of these groups with climate-forced population movement during the  4.2-kiloyear event , a Mega Drought that led to the abandonment of the entire  Khabur river valley  in  Upper Mesopotamia  in search of habitable areas. [ 63 ]


Zalloua and Wells (2004), under the auspices of a grant from  National Geographic Magazine , examined the origins of the  Canaanite   Phoenicians . The debate between Wells and Zalloua was whether  haplogroup   J2  (M172) should be identified as that of the Phoenicians or that of its "parent"  haplogroup  M89 on the  YDNA  phylogenetic tree. [ citation needed ]
Initial consensus suggested that  J2  be identified with the Canaanite-Phoenician (North Levantine) population, with avenues open for future research. [ 64 ]  As Wells commented, "The  Phoenicians  were the Canaanites" [ 64 ]  It was reported in the  PBS  description of the  National Geographic  TV Special on this study entitled "Quest for the Phoenicians" that  ancient DNA  was included in this study as extracted from the tooth of a 2500-year-old Phoenician  mummy . [ 65 ]  Wells identified the haplogroup of the Canaanites as haplogroup  J2  which originated from Anatolia and the  Caucasus . [ 64 ]


A 2016 study on 600  Cypriot  males asserts that "genome-wide studies indicate that the genetic affinity of  Cyprus  is nearest to current populations of the  Levant ". Analyses of Cypriot haplogroup data are consistent with two stages of prehistoric settlement.  E-V13  and  E-M34  are widespread, and PCA suggests sourcing them to the  Balkans  and  Levant / Anatolia , respectively. Contrasting haplogroups in the  PCA  were used as surrogates of parental populations. Admixture analyses suggested that the majority of G2a-P15 and R1b-M269 components were contributed by Anatolia and  Levant  sources, respectively, while  Greece / Balkans  supplied the majority of E-V13 and J2a-M67. Haplotype-based expansion times were at historical levels suggestive of recent demography. [ 66 ]  On the other hand, more recent Principal Component Analyses based on autosomal DNA, have placed Cypriots clearly separate from Levantine and Middle Eastern groups, either at the easternmost flank of the Southern European cluster, [ 67 ]  or in an intermediate position between Southern Europeans and northern Levantines. [ 36 ] [ 50 ] [ 68 ]  In a study by Harvard geneticist Iosif Lazarides and colleagues investigating the genetic origins of the Minoans and Mycenaeans, Cypriots were found to be the second least differentiated population from Bronze Age Mycenaeans based on FST index and also genetically differentiated from Levantines. [ 69 ]


A 2017 study found that both Turkish Cypriots' and Greek Cypriots' patrilineal ancestry derives primarily from a single pre-Ottoman local gene pool. The frequency of total haplotypes shared between Turkish and Greek Cypriots is 7-8%, with analysis showing that none of these are found in Turkey, thus not supporting a Turkish origin for the shared haplotypes. No shared haplotypes were observed between Greek Cypriots and mainland Turkish populations, while total haplotypes shared between Turkish Cypriots and mainland Turks is 3%. Turkish Cypriots also share haplotypes with North Africans to a lesser extent, and have Eastern Eurasian haplogroups (H, C, N, O, Q) – attributed to the arrival of the  Ottomans  – at a frequency of ~5.5%. Both Cypriot groups show close genetic affinity to  Calabrian  (southern Italy) and  Lebanese  patrilineages. The study states that the genetic affinity between Calabrians and Cypriots can be explained as a result of a common ancient Greek ( Achaean ) genetic contribution, while Lebanese affinity can be explained through several migrations that took place from coastal Levant to Cyprus from the Neolithic (early farmers), the Iron Age (Phoenicians), and the Middle Ages (Maronites and other Levantine settlers during the Frankish era). The predominant haplogroups among both Turkish and Greek Cypriots are J2a-M410, E-M78, and G2-P287. [ 70 ]


A study published by the  National Academy of Sciences  found that "the  paternal gene  pools of  Jewish  communities from  Europe ,  North Africa , and the  Middle East  descended from a common  Middle Eastern  ancestral population", and suggested that "most Jewish communities have remained relatively isolated from neighbouring non-Jewish communities during and after the  Jewish diaspora ". [ 72 ] [ 73 ]  According to geneticist Doron Behar and colleagues (2010), this is "consistent with a historical formulation of the Jewish people as descending from ancient  Israelites ". Approximately 35% to 43% of Jewish men are in the  paternal line  known as  haplogroup J  and its sub-haplogroups. This haplogroup is particularly present in the  Middle East ,  North Africa ,  Horn of Africa ,  Caucasus , as well as in  Southern Europe . [ 74 ]  15% to 30% are in haplogroup  E1b1b  (or  E-M35 ). Using Y-chromosome DNA from male Jews, a study sought to trace the patrilineal lineage of  Jewish priests  (Cohanim). Results revealed a common ancestral Y-chromosomal haplotype around 2650 years ago, possibly linked to the historic events of Jerusalem's First Temple destruction in 586 BC and the dispersion of the priesthood. [ 75 ]  Studies of  mitochondrial DNA  of Jewish populations are more recent, debatable, and more heterogeneous. [ 76 ]


Historical records and later genetic studies indicate that the Palestinian people descend mostly from Ancient Levantines extending back to Bronze Age inhabitants of Levant. [ 77 ]  A 2015 study by Verónica Fernandes and others concluded that Palestinians have a "primarily indigenous origin". [ 78 ]


A 2020 study on human remains from Middle Bronze Age Canaanite (2100–1550 BC) populations suggests a significant degree of genetic continuity in Arabic-speaking Levantine populations (such as Palestinians, Druze, Lebanese, Jordanians, Bedouins,and Syrians). [ 79 ]  Palestinians, among other Levantine groups, were found to derive 81–87% of their ancestry from Bronze age Levantines, relating to Canaanites as well as Kura–Araxes culture impact from before 2400 BCE (4400 years before present); 8–12% from an East African source and 5–10% from Bronze age Europeans. [ 79 ]


One DNA study by Nebel found substantial genetic overlap among Israeli/Palestinian Arabs and Jews.Nebel proposed that "part, or perhaps the majority" of Muslim Palestinians descend from "local inhabitants, mainly Christians and Jews, who had converted after the Islamic conquest in the seventh century AD". [ 80 ]


In a  genetic  study of  Y-chromosomal STRs  in two populations from Israel and the Palestinian Authority Area: Christian and Muslim Palestinians showed slight genetic differences. The majority of Palestinian Christians (31.82%) were a subclade of  E1b1b , followed by  G2a  (11.36%), and  J1  (9.09%). The majority of Palestinian Muslims were haplogroup  J1  (37.82%) followed by  E1b1b  (19.33%), and  T  (5.88%). The study sample consisted of 44 Palestinian Christians and 119 Palestinian Muslims. [ 81 ]


In 2004, a team of geneticists from  Stanford University , the  Hebrew University of Jerusalem ,  Tartu University  (Estonia),  Barzilai Medical Center  (Ashkelon, Israel), and the  Assaf Harofeh Medical Center  (Zerifin, Israel), studied the modern  Samaritan  ethnic community living in  Israel  in comparison with modern Israeli populations to explore the ancient genetic history of these people groups. Their findings reported on four family lineages among the Samaritans: the Tsdaka, Joshua-Marhiv, Danfi, and the  Cohen  family. All Samaritan families were found in  haplogroups   J1  and  J2 , except the Cohen family which was found in  haplogroup   E3b1a-M78 . [ 82 ]  This article predated the E3b1a subclades based on the research of  Cruciani et al. (2006) [ 83 ]


Mekel-Bobrov et al. (2005)  study of  ASPM gene variants , found that the  Israeli Druze  people of the  Carmel region  have among the highest rate of the newly evolved ASPM haplogroup D, at 52.2% occurrence of the approximately 6,000-year-old allele. [ 84 ]  While it is not yet known exactly what selective advantage is provided by this gene variant, the haplogroup D allele is thought to be positively selected in populations and to confer some substantial advantage that has caused its frequency to rapidly increase. According to  DNA  testing, Druze are remarkable for the high frequency (35%) of males who carry the  Y-chromosomal   haplogroup L , which is otherwise uncommon in the Middle East. [ 82 ]  This haplogroup originates from prehistoric South Asia and has spread from  Pakistan  into southern  Iran .


In a 2011 genetic study which analyzed the male-line Y-chromosome genetics of the different religious groups of Lebanon, revealed no noticeable or significant genetic differentiation between the  Maronites ,  Greek Orthodox Christians ,  Greek Catholic Christians ,  Sunni Muslims ,  Shia Muslims , and  Druze  of the region on the more frequent haplogroups. Major differences between  Lebanese  groups were found among the less frequent haplogroups. [ 85 ]  In a 2007 study, geneticist  Pierre Zalloua  found that the genetic marker which identifies descendants of the ancient  Phoenicians  is found among members of all of Lebanon's religious communities. [ 86 ]  In a 2013 interview Pierre Zalloua, pointed out that genetic variation preceded religious variation and divisions: "Lebanon already had well-differentiated communities with their own genetic peculiarities, but not significant differences, and religions came as layers of paint on top". [ citation needed ]


A 2017 study published by the  American Journal of Human Genetics , concluded that present-day Lebanese derive most of their ancestry from a  Canaanite-related population  (Canaanite being a pre- Phoenician  name), which therefore implies substantial genetic continuity in the Levant since at least the  Bronze Age . Geneticist Chris Tyler-Smith and his colleagues at the  Sanger Institute  in Britain compared "sampled ancient DNA from five Canaanite people who lived 3,750 and 3,650 years ago" to modern people; the comparison revealed that 93 percent of the genetic ancestry of people in Lebanon come from the Canaanites, and the other 7 percent is of a  Eurasian steppe  population. [ 87 ]


A 2019 study carried out by the  Wellcome Sanger Institute  analyzed the remains of nine  Crusaders  found at a burial site in Lebanon, and concluded that "contrary to the popular belief, the Crusaders did not leave a lasting effect on the genetics of Lebanese Christians." Instead, according to the study, today's Lebanese Christians are "more genetically similar to locals from the Roman period, which preceded the Crusades by more than four centuries." [ 88 ] [ 89 ]  A study on Beta Thalassemia Heterogeneity in Lebanon found out that the thalassemia mutations in some Lebanese Christians are similar to the ones observed in Macedonia, which "may confirm the  ancient Macedonian  origin of certain Lebanese Christians". [ 90 ]


According to a 2020 study published in the  American Journal of Human Genetics , there is substantial genetic continuity in Lebanon and the  Levant  of 91–67% since the  Bronze Age  (3300–1200 BC) interrupted by three significant admixture events during the  Iron Age ,  Hellenistic , and  Ottoman  period, each contributing 3%–11% of non-local ancestry to the admixed population. The admixtures were postulated to be related to  Sea Peoples , Central/South Asians and  Ottoman Turks  respectively. [ 91 ]


Turkish genomic variation, along with several other  Western Asian  populations, looks most similar to genomic variation of  South European  populations such as Southern Italians. [ 92 ]  Data from ancient DNA – covering the  Paleolithic , the  Neolithic , and the  Bronze Age  periods – showed that Western Asian genomes, including Turkish ones, have been greatly influenced by early agricultural populations in the area; later population movements, such as those of  Turkic speakers , also contributed. [ 92 ]  The first and only (as of 2017)  whole genome sequencing  study in Turkey was done in 2014. [ 92 ]  Moreover, the genetic variation of various populations in Central Asia "has been poorly characterized"; Western Asian populations may also be "closely related to populations in the east". [ 92 ]  An earlier 2011 review had suggested that "small-scale, irregular punctuated migration events" caused changes in language and culture "among Anatolia's diverse autochthonous inhabitants," which explains Anatolian populations' profile today. [ 93 ]


Various  genetic studies on  Filipinos  have been performed, to analyze the  population genetics  of the various  ethnic groups in the Philippines .


The results of a DNA study conducted by the  National Geographic 's "The Genographic Project", based on  genetic testings  of Filipino people by the National Geographic in 2008–2009, found that the Philippines is made up of around 53% Southeast Asia and Oceania, 36% East Asian, 5% European, 3% South Asian and 2% Native American genes. [ 1 ]


The first  Austronesians  reached the  Philippines  at around 2200 BC, settling the  Batanes Islands  and  northern Luzon . From there, they rapidly spread downwards to the rest of the islands of the Philippines and  Southeast Asia , as well as voyaging further east to reach the  Northern Mariana Islands  by around 1500 BC. [ 2 ] [ 3 ] [ 4 ]  They assimilated the older  Negrito  groups which arrived during the  Paleolithic , resulting in the modern  Filipino ethnic groups  which all display various ratios of  genetic admixture  between Austronesian and Negrito groups. [ 5 ]


A 2008 genetic study by  Leeds University  and published in  Molecular Biology and Evolution , showed that  mitochondrial DNA  lineages have been evolving within  Maritime Southeast Asia  since modern humans arrived approximately 50,000 years ago. The authors concluded that it was proof that Austronesians evolved within Island Southeast Asia and did not come from Taiwan (the "Out-of-Sundaland" hypothesis). Population dispersals occurred at the same time as sea levels rose, which resulted in migrations from the Philippine Islands into Taiwan within the last 10,000 years. [ 6 ]


However, these have been repudiated by a 2014 study published by  Nature  using  whole genome sequencing  (instead of only mtDNA) which has found that all ISEA populations had genes originating from the aboriginal Taiwanese. Contrary to the claim of a south-to-north migration in the "Out-of-Sundaland" hypothesis, the new whole genome analysis strongly confirms the north-to-south dispersal of the Austronesian peoples in the prevailing "Out-of-Taiwan" hypothesis. The researchers further pointed out that while humans have been living in Sundaland for at least 40,000 years, the Austronesian people were recent arrivals. The results of the 2008 study failed to take into account admixture with the more ancient but unrelated  Negrito  and  Papuan  populations. [ 7 ] [ 5 ]


A 2021 study states that the Philippines faced five migratory waves, with the first being led by Northern and Southern Negritos, who were distantly related to Australian and Papuan groups. The next wave was led by  Manobo  and  Sama , who populated the southern Philippines. The Sama show high genetic affinities with Austroasiatic-speaking groups in Mainland Southeast Asia such as  Mlabri  and  Htin . The latest wave was led by the  Cordillerans , who settled in the Cordilleran mountain range of north-central Luzon. They mixed with the older Negrito populations although Southern Negritos received additional Papuan-related ancestry. The study also found evidence of Northeast Asian ancestry, originating from the coastal China/Taiwan area, being dispersed into the Batanes Islands and coastal regions of Luzon.  [ 8 ]


The most frequently occurring  Y-DNA  haplogroups among modern Filipinos are  haplogroup O1a-M119 , which has been found with maximal frequency among the indigenous peoples of  Nias , the  Mentawai Islands , northern  Luzon , the  Batanes , and  Taiwan , and  Haplogroup O2-M122 , which is found with high frequency in many populations of East Asia, Southeast Asia, and  Polynesia .


In particular, the type of O2-M122 that is found frequently among Filipinos in general, O-P164(xM134), is also found frequently in other Austronesian populations, including  Polynesians . [ 12 ] [ 13 ] [ 14 ]  Trejaut  et al.  2014 found O2a2b-P164(xO2a2b1-M134) in 26/146 = 17.8% of a pool of samples of Filipinos (4/8 = 50% Mindanao, 7/31 = 22.6% Visayas, 10/55 = 18.2% South Luzon, 1/6 = 17% North Luzon, 2/22 = 9.1% unknown Philippines, 2/24 = 8.3% Ivatan).


The distributions of other subclades of O2-M122 in the Philippines were sporadic, but it may be noted that O2a1b-JST002611 was observed in 6/24 = 25% of a sample of  Ivatan  and 1/31 = 3.2% of a sample from the  Visayas , O2a2a1a2-M7 was observed in 1/6 = 17% of a sample from North Luzon, 1/55 = 1.8% of a sample from South Luzon, and 1/31 = 3.2% of a sample from the Visayas, and O2a2b1a1a-M133 was observed in 2/31 = 6.5% of a sample from the Visayas. [ 13 ]  A total of 45/146 = 30.8% of the sampled Filipinos were found to belong to Haplogroup O2-M122. [ 13 ]


In a study by Delfin  et al.  (2011), 21.1% (8/38) of a sample of highlanders of northern Luzon (17  Bugkalot , 12  Kalanguya , 6  Kankanaey , 2  Ibaloi , and 1  Ifugao ) were found to belong to haplogroup O2a2a1a2-M7, which is outside of the O2a2b-P164 clade and is uncommon among  Austronesian -speaking populations, being rather frequently observed among speakers of  Hmong-Mien ,  Katuic , and  Bahnaric  languages in southwestern China and eastern Mainland Southeast Asia.  [ 15 ]  (Delfin  et al.  also observed O-M7 in 5/39 = 12.8% of a sample of  Agta  from  Iriga  in southeastern Luzon and 5/36 = 13.9% of a sample of  Ati  from  Panay . [ 15 ] )


Haplogroup O1a -M119 is also commonly found among Filipinos (25/146 = 17.1% O1a-M119(xO1a1a-P203, O1a2-M50), 20/146 = 13.7% O1a1a-P203, 17/146 = 11.6% O1a2-M50, 62/146 = 42.5% O1a-M119 total according to Trejaut  et al.  2014) and is shared with other Austronesian-speaking populations, especially those in  Taiwan , western  Indonesia , and  Madagascar . [ 16 ]
R1b Y-DNA common in Spain and Western Europe was also detected among 12-13% of the sample size which had come to the area via immigration from Spain and Latin America, as well as  haplogroup I1  which came from  Germanic Europeans  and had spread to the Philippines from Anglo-America and consisting to about 0.95% of the sample size. Also included is  haplogroup H1a , that came from South Asian sources. [ 9 ] [ 10 ] [ 11 ]


After the 16th century, the colonial period saw the influx of genetic influence from other populations. This is evidenced by the presence of a small percentage of the Y-DNA  Haplogroup R1b  (R-M343) present among the population of the Philippines. DNA studies vary as to how small these lineages are. A year 2001 study conducted by  Stanford University   Asia-Pacific Research Center  stated that only 3.6% of the Philippine population had European Y-DNA. According to another genetic study done by the  Kaiser Permanente  (KP) Research Program on Genes, Environment, and Health (RPGEH), substantial number of Californian residents self-identifying as Filipinos sampled have "modest" amounts of European ancestry consistent with older admixture. [ 17 ]


The analysis of the full  autosomal  genome of 1,082 individuals from the Philippines has shown that "in contrast to several other Spanish-colonized regions, Philippine demography appears to have remained largely unaffected by admixture with Europeans" (Larena et al. 2021). European admixture is found at a low level among individuals from lowland groups such as  Ilocanos  and  Cebuanos , and reaches significant population-wide levels among urbanized lowlanders,  Bicolanos  and  Chavacano -speaking Mestizos. [ 18 ]


One study found that the Y-DNA of two out of 64 sampled Filipino males belonged to  Haplogroup Q-M242  (which has its highest frequency among  Native Americans  and Asian Siberians and is also found in other Asians). [ 19 ]


The Indian  Mitochondrial DNA  haplogroups, M52'58 and M52a are also present in the Philippines suggesting that there was Indian migration to the archipelago starting from the 5th Century AD. [ 20 ]


The integration of Southeast Asia into Indian Ocean trading networks around 2,000 years ago also shows some impact, with South Asian genetic signals that are present in the  Indonesian archipelago  also extending into the Philippines among the Sama-Bajau communities. [ 18 ]


A recent genetic study found 10-20% of Cebuano ancestry is attributable to  South Asian  (Indian) descent, [ 21 ]  dated to a time when Precolonial Cebu practiced Hinduism. [ 22 ]


Genetic studies  show that  Russians  are relatively closest to   Poles ,  Belarusians ,  Ukrainians  and  other Slavs  as well as  Latvians ,  Estonians  and  Lithuanians .  [ 1 ]   The  northern group  of Russians are closest to the Finnic-speaking peoples. Russians display quite significant genetic heterogenity, evidence for multiple genetic ancestries and admixture events, and high identity-by-descent sharing with the Finnic people among the population of the north-east of the European part of Russia . [ 2 ]


Eight Y chromosome haplogroup subclades, including R1a, N3, I1b, R1b, I2a, J2, N2, and E3b all together, account for >95% of the total Russian Y chromosomal pool. Of the 1228 samples, 11/1228 (0.9%) were classified up to the root level of haplogroups  F  and  K . Around  22.4% fell into haplogroups and subclades of  C ,  Q ,  N  and  R2  which are specific to Siberian, East and South-Central Asian populations. The majority, around 70.1% fell into haplogroups and subclades of  I ,  R1a  and  R1b  which are specific to European populations. [ 1 ]


The top four Y-DNA haplogroups among the sample of 1228 Russians are: [ 1 ]


The  mitochondrial  gene pool of Russians are represented by mtDNA types belonging to typical  West Eurasian  groups.  East Eurasian  admixture was shown to be minimal and existed in low frequencies in the form of  Haplogroup M . [ 3 ] [ 4 ]  The same studies indicate Eurasian haplogroups present at a frequency of  97.8%  and  98.5%  among a sample of 325 and 201 Russians respectively. [ 3 ] [ 4 ]


Autosomally , Russians are most similar to populations in Eastern Europe, especially other Eastern Slavs. Some populations of the Russian north show significant affinity with  the Baltic-Finnic and Komi peoples. [ 6 ]  They display increased Siberian-like ancestry which entered the Eastern European gene pool between 4700–8000 years ago, after having diverged from  East Asians  8800–11,200 years ago. [ 2 ]


While all Russians, and other Eastern European ethnic groups display variable amounts of such geneflow from  East Asian  sources, genetic research suggests even higher amounts of Siberian admixture among Northern and Northwestern Russians, who display high identity-by-descent sharing with the Finnish people. [ 2 ]


Eastern Siberian-like ancestry was found at an average frequency of ~8–13%  northern and northeastern Russians, while for other groups of Russians this contribution is about ~1-4%  . This Eastern Siberian-like ancestry is maximized among modern  Nganasan people  and a  Bronze Age  specimen from Southern Siberia (Krasnoyarsk_Krai_BA), suggesting the assimilation and slavification of formerly  Uralic-speaking  ethnic groups during the expansion of early Slavs. [ 7 ] [ 8 ] [ 9 ]  A study by Wang et al. argued that the levels of "Eastern Siberian" ancestry among Russians, but also Finns, may be linked to the diffusion of paternal  haplogroup N-M231 . [ 10 ]


Overall, the population of Russia displays strong genetic heterogenity. [ 11 ] [ 2 ] [ 12 ]  Ethnic Russians primarily descended from the early  Slavic peoples , which diverged from other  Indo-Europeans , and early absorbed  Uralic-speaking  groups as well as  Eurasian Steppe  groups. Subsequently Russians expanded further eastwards, later coming into contact with various other groups, such as  Turkic ,  Mongolic  and  Tungusic peoples  as well as Paleo-Siberian groups of Siberia, such as  Kets ,  Yukaghirs  and  Itelmens . Geneflow between Asian minority groups and Russians contributed to the overall pattern of genome diversity across the different ethno-linguistic groups of Russia. [ 13 ] [ 14 ]  The Russian gene pool, even taking into account contacts with Asians, is a typical European one. It lacks the Mongoloid contribution. [ 15 ]


Genetics and archaeogenetics of South Asia  is the study of the  genetics  and  archaeogenetics  of the  ethnic groups of South Asia . It aims at uncovering these groups'  genetic histories . The geographic position of the  Indian subcontinent  makes its biodiversity important for the study of the early dispersal of  anatomically modern humans  across  Asia .


Based on mitochondrial DNA ( mtDNA ) variations, genetic unity across various South Asian subpopulations have shown that most of the ancestral nodes of the phylogenetic tree of all the mtDNA types originated in the subcontinent. [ 2 ] [ 3 ] [ 4 ] [ 5 ]  Conclusions of studies based on Y chromosome variation and autosomal DNA variation have been varied.


The genetic makeup of modern South Asians can be described at the deepest level as a combination of West Eurasian (related to ancient and modern people in Europe and  West Asia ) ancestries with divergent  East Eurasian ancestries . The latter primarily include a proposed indigenous South Asian component (termed  Ancient Ancestral South Indians , short "AASI") that is distantly related to the  Andamanese peoples , as well as to  East Asians  and  Aboriginal Australians , and further include additional, regionally variable East/Southeast Asians components. [ 6 ] [ 7 ] [ 8 ] [ 9 ]


The proposed AASI type ancestry is closest to the non-West Eurasian part, termed  S-component , extracted from South Asian samples, especially those from the  Irula  tribe, and is generally found throughout all South Asian ethnic groups in varying degrees. [ 7 ]  The West Eurasian ancestry, which is closely related to  Mesolithic  hunter-gatherers and  Neolithic  farmers who lived on the  Iranian Plateau  (who are also closely related to  Caucasus hunter-gatherers ), forms the major source of the South Asian genetic makeup, and combined with varying degrees of AASI ancestry, formed the  Indus Periphery  Cline  around ~5400–3700 BCE, which constitutes the main ancestral heritage of most modern South Asian groups. The Indus Periphery ancestry, around the 2nd millennium BCE, mixed with another West Eurasian wave, the incoming mostly male-mediated  Yamnaya -Steppe component (archaeogenetically dubbed the  Western Steppe Herders ) to form the  Ancestral North Indians  (ANI), while at the same time it contributed to the formation of  Ancestral South Indians  (ASI) by admixture with hunter-gatherers having higher proportions of AASI-related ancestry. The ANI-ASI gradient, as demonstrated by the higher proportion of ANI in traditionally  upper caste  and  Indo-European  speakers, that resulted because of the admixture between the ANI and the ASI after 2000 BCE at various proportions is termed as the  Indian Cline . [ 6 ] [ 7 ] [ 10 ] [ 11 ]  The East Asian ancestry component forms the major ancestry among  Tibeto-Burmese  and  Khasian  speakers, and is generally restricted to the  Himalayan foothills  and  Northeast India , with substantial presence also in  Munda-speaking groups , as well as in some populations of northern, central and eastern South Asia. [ 12 ] [ 13 ] [ 14 ] [ 15 ] [ 16 ] [ 17 ] [ 18 ]


Modern South Asians are descendants of a combination of Western Eurasian ancestries (notably "Iran Neolithic Farmers" and " Western Steppe Herder " components) with an indigenous South Asian component (termed  Ancient Ancestral South Indians , short "AASI") closest to the non–West Eurasian part extracted from South Asian samples; distantly related to the  Andamanese peoples , as well as to  East Asians  and  Aboriginal Australians , as well as regional variable additional East/Southeast Asian components respectively. [ 6 ] [ 7 ] [ 8 ] [ 9 ]


The proposed AASI lineage, which is hypothesized to represent the ancestry of the very first hunter-gatherers and peoples of the Indian subcontinent, formed around ~40,000 years  BCe . It was found that the AASI are distinct from Western Eurasian groups and have a closer genetic affinity with  Ancient East Eurasians  (such as Andamanese Onge or East Asian peoples). Based on this, it has been inferred that the AASI lineage diverged from other Eastern Eurasian lineages, such as 'Australasians' and ' East/Southeast Asian people ', during their  dispersal using a Southern route . [ 8 ]  The Andamanese people are among the relatively most closely related modern populations to the AASI component and henceforth used as an (imperfect) proxy for it, [ 6 ] [ 10 ]  but others (Yelmen et al. 2019) note that both are deeply diverged from each other, and propose that the AASI type ancestry is closest to the non-West Eurasian part, termed  S-component , extracted from the South Asian samples, especially those from the  Irula  tribe. [ 7 ] [ 19 ] [ 20 ] [ 21 ]  Shinde et al. 2019 noted that both Andamanese Onge or East Siberian groups can be used as proxy for the non-West Eurasian-related component in the " qpAdm " admixture-modelling of an  IVC -related individual (labelled "I6113") because both populations "have the same phylogenetic relationship to the non-West Eurasian-related of I6113 likely due to shared ancestry deeply in time". [ 22 ]  According to Yang (2022): [ 8 ]


This distinct South Asian ancestry, denoted as the Ancient Ancestral South Indian (AASI) lineage, was only found in a small percentage of ancient and present-day South Asians. Present-day Onge from the Andamanese Islands are the best reference population to date, but Narasimhan et al. used qpGraph to show that the divergence between the AASI lineage and the ancestry found in present-day Onge was very deep. Ancestry associated with the AASI lineage was found at low levels in almost all present-day Indian populations.


Genetic data shows that the main West Eurasian geneflow event happened during the  Neolithic period , [ 23 ]  or already during the  Holocene  (pre-Neolithic period). [ 22 ] [ 6 ] [ 11 ] [ 15 ] [ 16 ] [ 18 ] [ 24 ] [ 25 ] [ 26 ]  There is also evidence that some West Eurasian like ancestry reached South Asia earlier, during the Upper Paleolithic (around 40,000–30,000 years BCe)." [ web 1 ] [ 27 ]  The Neolithic or Pre-Neolithic Iranian lineage, which may be associated with the spread of  Dravidian languages , forms the major source of the South Asian gene pool, and contributed foundational to all modern South Asians. Paired with varying degrees of AASI admixture, the Ancient Iranian lineage gave rise to the  Indus Periphery Cline , which is characteristic for modern South Asians and central in the South Asian genetic heritage. Genetic data suggests that the specific Ancient Iranian-related lineage, diverged from Neolithic Iranian plateau lineages more than 10,000 years ago. [ 22 ] [ 6 ] [ 11 ] [ 15 ] [ 16 ] [ 26 ] [ 24 ] [ 28 ] [ 29 ] [ 30 ]  According to an international research team led by palaeogeneticists of the Johannes Gutenberg University Mainz (JGU), the main ancestry component of South Asians is derived from a population related to Neolithic farmers from the eastern  Fertile Crescent  and  Iran . [ 11 ]


In the 2nd millennium BCE, the  Indus Periphery -related ancestry mixed with the arriving Yamnaya-Steppe component forming the  Ancestral North Indians  (ANI), while at the same time it contributed to the formation of  Ancestral South Indians  (ASI) by admixture with hunter-gatherers further South having higher proportions of AASI-related ancestry. The proximity to West Eurasian populations is based on the  ANI-ASI  gradient, also termed the  Indian Cline , with the groups harboring higher ANI-ancestry being closer to West Eurasians as compared to populations harboring higher ASI-ancestry. Tribal groups from southern India harbor mostly ASI ancestry and sits farthest from West Eurasian groups on the  PCA  compared to other South Asians. The  Yamnaya  or  Western Steppe pastoralist  component is found in higher frequency among  Indo-Aryan speakers , and is distributed throughout the  Indian subcontinent  at lower frequency. [ 6 ] [ 10 ]  Certain communities and caste groups from the northern Indian subcontinent display a peak of Western Steppe Herders ancestry at similar amounts as Northern Europeans. [ 16 ] [ 9 ]


An East Asian-related ancestry component forms the major ancestry among  Tibeto-Burmese  and  Khasi
an  speakers in the  Himalayan foothills  and  Northeast India , and is also found in substantial presence in  Mundari-speaking groups . [ 12 ] [ 13 ] [ 31 ] [ 25 ]  According to Zhang et al., Austroasiatic migrations from Southeast Asia into India took place after the last Glacial maximum, circa 10,000 years ago. [ 32 ]  Arunkumar et al. suggest Austroasiatic migrations from Southeast Asia occurred into Northeast India 5.2 ± 0.6 kya and into East India 4.3 ± 0.2 kya. [ 33 ]  Tätte et al. 2019 estimated that the Austroasiatic language speaking people admixed with Indian population about 2000–3800 years ago, which may suggest arrival of Southeast Asian genetic component in the area. [ 34 ]


It has been found that the ancestral node of the phylogenetic tree of all the  mtDNA  types ( mitochondrial DNA haplogroups ) typically found in Central Asia, the West Asia and Europe are also to be found in South Asia at relatively high frequencies. The inferred divergence of this common ancestral node is estimated to have occurred slightly less than 50,000 years ago. [ 35 ]  In India, the major maternal lineages are various  M  subclades, followed by  R  and  U  sublineages. These mitochondrial haplogroups' coalescence times have been approximated to date to 50,000 BP. [ 35 ]


The major  paternal lineages  of South Asians are represented by the West Eurasian-affiliated haplogroups  R1a1 ,  R2 ,  H ,  L  and  J2 . A minority belongs to the East Eurasian-affiliated  Haplogroup O-M175 . O-M175 is mainly restricted to  Austroasiatic  and  Tibeto-Burmese  speakers, and also common among East and Southeast Asians, while H is largely restricted to South Asians and R1a1, J2 and L as well as a subclade of H (H2) are commonly found among European and Middle Eastern populations. [ 36 ] [ 37 ]  Some researchers have argued that Y-DNA Haplogroup R1a1 (M17) is of  autochthonous  South Asian origin. [ 38 ] [ 39 ]  However, proposals for a Central Asian/Eurasian steppe origin for R1a1 are also quite common and supported by several more recent studies. [ 38 ] [ 40 ] [ 41 ] [ 42 ] [ web 2 ]  Other minor haplogroups include subclades of  Q-M242 ,  G-M201 ,  R1b , as well as  Haplogroup C-M130 . [ 38 ] [ 43 ] [ 44 ]


Genetic studies comparing eight X chromosome based STR markers using a multidimensional scaling plot (MDS plot), revealed that modern-day South Asians like Indians, Pakistanis, Bangladeshis and  Sinhalese people  cluster close to each other, but also closer to  Europeans . In contrast Southeast Asians, East Asians and Africans were placed at a distant positions, outside the main cluster. [ 45 ]


The most frequent  mtDNA haplogroups  in South Asia are  M ,  R  and  U  (where U is a descendant of R). [ 36 ]
Arguing for the longer term "rival Y-Chromosome model", [ 38 ]   Stephen Oppenheimer  believes that it is highly suggestive that India is the origin of the  Eurasian   mtDNA  haplogroups which he calls the "Eurasian Eves". According to Oppenheimer it is highly probable that nearly all human maternal lineages in Central Asia, the Middle East and Europe descended from only four mtDNA lines that originated in South Asia 50,000–100,000 years ago. [ 46 ]


The  macrohaplogroup M , which is considered as a cluster of the proto-Asian maternal lineages, [ 35 ]  represents more than 60% of South Asian MtDNA. [ 47 ]


The M macrohaplotype in India includes many subgroups that differ profoundly from other sublineages in East Asia especially Mongoloid populations. [ 35 ]  The deep roots of M phylogeny clearly ascertain the relic of South Asian lineages as compared to other M sublineages (in East Asia and elsewhere) suggesting 'in-situ' origin of these sub-haplogroups in South Asia, most likely in India. These deep-rooting lineages are not language specific and spread over all the language groups in India. [ 47 ]


Virtually all modern Central Asian MtDNA M lineages seem to belong to the Eastern Eurasian ( Mongolian ) rather than the South Asian subtypes of haplogroup M, which indicates that no large-scale migration from the present  Turkic -speaking populations of Central Asia occurred to India. The absence of haplogroup M in Europeans, compared to its equally high frequency among South Asians, East Asians and in some Central Asian populations contrasts with the Western Eurasian leanings of South Asian paternal lineages. [ 35 ]


Most of the extant mtDNA boundaries in South and Southwest Asia were likely shaped during the initial settlement of Eurasia by anatomically modern humans. [ 48 ]


The  macrohaplogroup R  (a very large and old subdivision of  macrohaplogroup N ) is also widely represented and accounts for the other 40% of South Asian MtDNA. A very old and most important subdivision of it is  haplogroup U  that, while also present in  West Eurasia , has several subclades specific to South Asia.


Most important South Asian haplogroups within R: [ 48 ]


Haplogroup U  is a sub-haplogroup of macrohaplogroup R. [ 48 ]  The distribution of haplogroup U is a mirror image of that for haplogroup M: the former has not been described so far among eastern Asians but is frequent in European populations as well as among South Asians. [ 49 ]  South Asian U lineages differ substantially from those in Europe and their coalescence to a common ancestor also dates back to about 50,000 years. [ 2 ]


It is also found in SW Arabia.


It is also found in Oman.


The major South Asian Y-chromosome DNA haplogroups are  H ,  J2 ,  L ,  R1a1 ,  R2 , which are commonly found among other West Eurasian populations, such as Middle Easterners or Europeans. [ 36 ]  Their geographical origins are listed as follows, according to the latest scholarship:


R- M417


Haplogroup H (Y-DNA)  is found at a high frequency in South Asia and is considered to represent the major paternal lineage. H is today rarely found outside of South Asia, but is common among South Asian-descended populations, such as the  Romanis , particularly the H-M82 subgroup. H was also found in some ancient samples of Europe and is still found today at a low frequency in certain southeastern Europeans and Arabs of the  Levant . Haplogroup H is frequently found among populations of  India ,  Sri Lanka ,  Nepal ,  Bangladesh ,  Pakistan  and the  Maldives . All three branches of  Haplogroup H (Y-DNA)  are found in South Asia.


Probable site of introduction;  South Asia  or  West Asia [ 50 ]  or Southern  Central Asia . [ 51 ]  It seems to represent the main Y-Chromosome haplogroup of the paleolithic inhabitants of South Asia and Europe respectively. Some individuals in South Asia have also been shown to belong to the much rarer subclade H3 (Z5857). [ 52 ]  Haplogroup H is by no means restricted to specific populations. For example, H is possessed by about 28.8% of Indo-Aryan castes. [ 38 ] [ 53 ]  and in tribals about 25–35%. [ 40 ] [ 53 ]


Haplogroup J2 has been present in South Asia mostly as J2a-M410 and J2b-M102, since neolithic times (9500 YBP). [ 54 ] [ 55 ]  J2 clades attain peak frequencies in the North-West and South India [ 54 ]  and is found at 19% within South Indian castes, 11% in North Indian castes and 12% in Pakistan. [ 38 ]  In  South India , the presence of J2 is higher among middle castes at 21%, followed by upper castes at 18.6% and lower castes at 14%. [ 38 ]  Among caste groups, the highest frequency of J2-M172 is observed among Tamil  Vellalars  of South India, at 38.7%. [ 38 ]  J2 is present in tribals too [ 54 ]  and has a frequency of 11% in Austro-Asiatic tribals. Among the Austro-Asiatic tribals, the predominant  J2  occurs in the Lodha (35%). [ 38 ]  J2 is also present in the South Indian  hill tribe   Toda  at 38.46%, [ 56 ]  in the  Andh tribe  of  Telangana  at 35.19% [ 40 ]  and in the  Kol tribe  of  Uttar Pradesh  at a frequency of 33.34%. [ 57 ]  Haplogroup J-P209 was found to be more common in India's  Shia Muslims , of which 28.7% belong to haplogroup J, with 13.7% in J-M410, 10.6% in J-M267 and 4.4% in J2b. [ 58 ]


In  Pakistan , the highest frequencies of J2-M172 were observed among the  Parsis  at 38.89%, the  Dravidian -speaking  Brahuis  at 28.18% and the Makrani  Balochs  at 24%. [ 59 ]  It also occurs at 18.18% in  Makrani Siddis  and at 3% in  Karnataka Siddis . [ 59 ] [ 60 ]


J2-M172 is found at an overall frequency of 10.3% among the  Sinhalese people  of  Sri Lanka . [ 43 ]  In  Maldives , 20.6% of Maldivian population were found to be haplogroup J2 positive. [ 61 ]


According to Dr.  Spencer Wells , L-M20 originated either in  India  or the  Middle East , among the  K-M9  descendants that migrated southwards from the  Pamir Knot , and reached India c. 30,000 years ago. [ 62 ] [ 63 ]  Other studies have proposed either a  West Asian  or  South Asian  origin for L-M20 and associated its expansion in the  Indus valley  (~7,000 YBP) to  neolithic  farmers. [ 40 ] [ 53 ] [ 59 ] [ 64 ] [ 65 ] [ 66 ]  Genetic studies suggest that L-M20 may be one of the haplogroups of the original creators of the  Indus Valley Civilisation . [ 67 ] [ 68 ]  There are three subbranches of haplogroup L: L1-M76 (L1a1), L2-M317 (L1b) and L3-M357 (L1a2), found at varying levels in South Asia. [ 38 ]


Haplogroup L  shows time of neolithic expansion. [ 69 ]  The clade is present in the Indian population at an overall frequency of c. 7–15%. [ 38 ] [ 40 ] [ 53 ] [ 70 ]  Haplogroup L has a higher frequency among south Indian castes (c. 17–19%) and reaches 68% in some castes in  Karnataka  but is somewhat rarer in northern Indian castes (c. 5–6%). [ 38 ]  The presence of haplogroup L is quite rare among tribal groups (c. 5.6–7%); [ 38 ] [ 40 ] [ 53 ]  however, 14.6% has been observed among the  Chenchus . [ 43 ]


Among regional and social groups, moderate to high frequencies have been observed in  Jats  (36.8%), [ 68 ]  Konkanastha Brahmins (18.6%),  Lambadis  (17.1%), Punjabis (12.1%) and Gujaratis (10.4%). [ 43 ]


In Pakistan, L1-M76 and L3-M357 subclades of L-M20 reach overall frequencies of 5.1% and 6.8%, respectively. [ 38 ]  Haplogroup L3 (M357) is found frequently among  Burusho  (approx. 12% [ 71 ] ) and  Pashtuns  (approx. 7% [ 71 ] ). Its highest frequency can be found in south western  Balochistan  province along the  Makran  coast (28%) to  Indus River  delta. L3a (PK3) is found in approximately 23% of  Nuristani  in northwest  Pakistan . [ 71 ]


The clade is present in moderate distribution among the general Pakistani population (14% approx). [ 59 ] [ 64 ]


In one study, 16% of the Sinhalese were found to be Haplogroup L-M20 positive. [ 72 ]  In another study 18% were found to belong to L1. [ 43 ]


In South Asia, R1a1 has been observed often with high frequency in a number of demographic groups, [ 39 ] [ 38 ] [ 73 ]  as well as with highest  STR  diversity which lead some to see it as the locus of origin. [ 57 ] [ 43 ] [ 74 ]


While R1a originated c. 22,000 [ 57 ]  to 25,000 [ 75 ]  years ago, its subclade M417 (R1a1a1) diversified c. 5,800 years ago. [ 75 ]  The distribution of M417-subclades R1-Z282 (including R1-Z280) [ 76 ]  in Central and Eastern Europe and R1-Z93 in Asia [ 75 ] [ 76 ]  suggests that R1a1a diversified within the  Eurasian Steppes  or the  Middle East  and  Caucasus  region. [ 76 ]  The place of origin of these subclades plays a role in the debate about the origins of  Indo-Europeans .


In  India , a high percentage of this haplogroup is observed in  West Bengal Brahmins  (72%) [ 38 ]  to the east,  Gujarat Lohanas  (60%) [ 73 ]  to the west,  Khatris  (67%) [ 73 ]  in the north, and  Karnataka  Medars (39%) in the south. [ 60 ]  It has also been found in several  South Indian   Dravidian -speaking  tribals  including the Kotas (41%) of Tamil Nadu, [ 56 ]   Chenchu  (26%) and Valmikis of  Andhra Pradesh [ 43 ]  as well as the  Yadav  and  Kallar  of  Tamil Nadu  suggesting that M17 is widespread in these southern Indians tribes. [ 43 ]  Besides these, studies show high percentages in regionally diverse groups such as  Manipuris  (50%) [ 73 ]  to the extreme northeast and in among  Punjabis  (47%) [ 43 ]  to the extreme northwest.


In Pakistan, it is found at 71% among the Mohanna of  Sindh Province  to the south and 46% among the  Baltis  of  Gilgit-Baltistan  to the north. [ 73 ]


23% of the  Sinhalese people  out of a sample of 87 subjects were found to be R1a1a (R-SRY1532) positive according to a 2003 research, [ 72 ]  while another research in the same year found 12.8% of 38 samples belonged to this specific haplogroup. [ 43 ]


In the  Maldives , 23.8% of the  Maldivian people  were found to be R1a1a (M17) positive. [ 61 ]


People in  Terai  region,  Nepal  show R1a1a at 69%. [ 77 ]


In South Asia, the frequency of  R2  and  R2a  lineage is around 10–15% in India and  Sri Lanka  and 7–8% in Pakistan. At least 90% of R-M124 individuals are located in South Asia. [ 78 ]  It is also reported in  Caucasus  and  Central Asia  at a lower frequency. A genetic study by Mondal et al. in 2017 concluded that  Haplogroup R2  originated in northern India and was already present before the Steppe migration. [ 79 ]


Among regional groups, it is found among  West   Bengalis  (23%),  New Delhi   Hindus  (20%),  Punjabis  (5%) and  Gujaratis  (3%). [ 43 ]  Among tribal groups, the  Karmali tribe  of  West Bengal  showed highest at 100% [ 39 ]  followed by  Lodhas  (43%) [ 80 ]  to the east, while  Bhil  of  Gujarat  in the west were at 18%, [ 57 ]   Tharus  of the north showed it at 17%, [ 5 ]  the  Chenchu  and  Pallan  of the south were at 20% and 14% respectively. [ 38 ] [ 39 ]  Among caste groups, high percentages are shown by  Jaunpur   Kshatriyas  (87%),  Kamma  (73%),  Bihar   Yadav  (50%),  Khandayat  (46%)and  Kallar  (44%). [ 39 ]


It is also significantly high in many  Brahmin  groups including  Punjabi Brahmins  (25%),  Bengali Brahmins  (22%),  Konkanastha  Brahmins (20%),  Chaturvedis  (32%),  Bhargavas  (32%),  Kashmiri Pandits  (14%) and  Lingayat  Brahmins (30%). [ 5 ] [ 39 ] [ 41 ] [ 57 ]


North Indian Muslims have a frequency of 19% ( Sunni ) and 13% ( Shia ), [ 41 ]  while  Dawoodi Bohra Muslim  in the western state of Gujarat have a frequency of 16% and  Mappila Muslims  of southern India have a frequency of 5%. [ 81 ]


The R2 haplogroup is found in 14% of the  Burusho people . [ 71 ]  Among the  Hunza people  it is found at 18% while the  Parsis  show it at 20%. [ citation needed ]


38% of the  Sinhalese  of Sri Lanka were found to be R2 positive according to a 2003 research. [ 43 ]


12% of the  Maldivians  are found to have R2. [ 61 ]


In Nepal, R2 percentages range from 2% to 26% within different groups under various studies.  Newars  show a significantly high frequency of 26% while people of  Kathmandu  show it at 10%.


Haplogroup O1 (O-F265) and O2 (O-M122), the primary branches of  Haplogroup O-M175  are very common among the  Austroasiatic  and  Tibeto-Burmese  speaking populations of South Asia respectively. [ 82 ]


Haplogroup O-M95 , a subclade of O1-F265, is mainly restricted in  Austroasiatic-speaking  groups in South Asia. [ 80 ] [ 83 ]  According to Kumar  et al  2007, M95 averages at 55% in  Munda  and 41% of  Khasi-Khmuic  speakers of from Northeast India, while Reddy et al. 2007 found an average frequency 53% among Mundari and 31% among Khasi speakers. [ 80 ] [ 82 ]  Zhang et al. 2015, found a higher average of 67.53% and 74,00% among Munda and Khasi-speaking groups respectively. [ 83 ]  Abundant in the  Andaman and Nicobar Islands  (averaging ~45%), it is fixed (100%) in some populations like  Shompen ,  Onge  and  Nicobarese . [ 80 ] [ 83 ]  A migration of O-M95 from Southeast Asia into India has been suggested with an expansion time of 5.2 ± 0.6 KYA in Northeast India. [ 37 ]


Haplogroup O2-M122  is primarily found among the males of  Tibeto-Burmese  ancestry in the Himalayas and Northeast India. [ 84 ]  Haplogroup O-M122, believed to have originated in  Southern China  shows very high percentages. [ 85 ]  It is found at 86.6% among  Tamangs  of Nepal, with similarly high frequencies, 75% to 85%, among the northeastern Indian Tibeto-Burman groups, including  Adi ,  Naga ,  Apatani ,  Nyishi ,  Kachari  and  Rabha . [ 84 ] [ 86 ]  In  Northeast India , Baric speakers display a high frequency and homogeneity of O-M134, indicating a population bottleneck effect that occurred during a westward and then southward migration of the founding population of Tibeto-Burmans during its branching from the parental population. [ 84 ]  It has a significant presence among the  Khasis  (29%), despite being generally absent in other Austroasiatics of India, and it shows up at 55% among neighbouring  Garos , a Tibeto-Burman group. [ 80 ]


The  Indian Genome Variation Consortium , divides the population of South Asia into four ethnolinguistic (not genetic) groups:  Indo-European ,  Dravidian ,  Tibeto-Burman  and  Austro-Asiatic . [ 87 ] [ 88 ] [ 89 ] [ 90 ] [ 91 ]  The molecular anthropology studies use three different type of markers: Mitochondrial DNA (mtDNA) variation which is maternally inherited and highly polymorphic, Y Chromosome variation which involves uniparental transmission along the male lines, and  Autosomal DNA  variation. [ 5 ] : 04


Most of the studies based on mtDNA variation have reported genetic unity of South Asian populations across language, caste and tribal groups. [ 2 ] [ 3 ] [ 4 ]  It is likely that haplogroup M was brought to Asia from East Africa along the southern route by earliest migration wave 78,000 years ago. [ 2 ]


According to  Kivisild  et al. (1999), "Minor overlaps with lineages described in other Eurasian populations clearly demonstrate that recent immigrations have had very little impact on the innate structure of the maternal  gene pool  of South Asians. Despite the variations found within India, these populations stem from a limited number of founder lineages. These lineages were most likely introduced to South Asia during the Middle Palaeolithic, before the peopling of Europe 48,000 years ago and perhaps the Old World in general." [ 2 ]  Basu et al. (2003) also emphasises underlying unity of female lineages in India. [ 70 ]


Conclusions based on Y Chromosome variation have been more varied than those based on mtDNA variation. While Kivisild et al. [ 43 ]  proposes an ancient and shared genetic heritage of male lineages in South Asia, Bamshad et al. (2001) suggests an affinity between South Asian male lineages and modern west Eurasians proportionate to upper-caste rank and places upper-caste populations of southern Indian states closer to East Europeans. [ 92 ]


Basu et al. (2003) concludes that Austro–Asiatic tribal populations entered India first from the Northwest corridor and much later some of them through Northeastern corridor. [ 70 ]  Whereas, Kumar et al. (2007) analysed 25 South Asian Austro-Asiatic tribes and found a strong paternal genetic link among the sub-linguistic groups of the South Asian Austro-Asiatic populations. [ 80 ]  Mukherjee et al. (2001) places Pakistanis and North Indians between west Asian and Central Asian populations, [ 93 ]  whereas Cordaux et al. (2004) argues that the Indian caste populations are closer to Central Asian populations. [ 53 ]  Earlier studies like Sahoo et al. (2006) and Sengupta et al. (2006) suggested that Indian caste populations have not been subject to any recent admixtures. [ 38 ] [ 39 ]


Closest-neighbor analysis done by Mondal et al. in 2017 concluded that Indian Y-lineages are close to southern  European  populations and the time of divergence between the two at least in part predated  Bronze-Age Steppe migration  into India: [ 79 ]


These results suggest that the European-related ancestry in Indian populations might be much older and more complex than anticipated, and might originate from the first wave of agriculturists or even earlier


Results of studies based upon autosomal DNA variation have also been varied. In a major study (2009) using over 500,000 biallelic autosomal markers, Reich hypothesized that the modern South Asian population was the result of admixture between two genetically divergent ancestral populations dating from the post-Holocene era. These two "reconstructed" ancient populations he termed "Ancestral South Indians" (ASI) and "Ancestral North Indians" (ANI). According to Reich: "ANI ancestry is significantly higher in Indo-European than Dravidian speakers, suggesting that the ancestral ASI may have spoken a Dravidian language before mixing with the ANI." While the ANI is genetically close to Middle Easterners, Central Asians and Europeans, the ASI is not closely related to groups outside of the subcontinent. As no "ASI" ancient DNA is available, the indigenous  Andamanese   Onge  are used as an (imperfect) proxy of ASI (according to Reich et al., the Andamanese, though distinct from them, are the closest living population to the ASI). According to Reich et al., both ANI and ASI ancestry are found all over the subcontinent (in both northern and southern India) in varying proportions, and that "ANI ancestry ranges from 39–71% in India, and is higher in traditionally upper caste and Indo-European speakers." [ 10 ]


According to Gallego Romero et al. (2011), their research on lactose tolerance in India suggests that "the west Eurasian genetic contribution identified by Reich et al. (2009) principally reflects gene flow from Iran and the Middle East". [ 94 ]  Gallego Romero notes that Indians who are lactose-tolerant show a genetic pattern regarding this tolerance which is "characteristic of the common European mutation". [ 95 ]  According to Romero, this suggests that "the most common lactose tolerance mutation made a two-way migration out of the Middle East less than 10,000 years ago. While the mutation spread across Europe, another explorer must have brought the mutation eastward to India – likely traveling along the coast of the Persian Gulf where other pockets of the same mutation have been found." [ 95 ]


Moorjani et al. 2013 state that the ASI, though not closely related to any living group, are "related (distantly) to indigenous Andaman Islanders." Moorjani et al. however suggest possible gene flow into the Andamanese from a population related to the ASI, causing the modeled relationship. The study concluded that "almost all groups speaking Indo-European or Dravidian languages lie along a gradient of varying relatedness to West-Eurasians in PCA (referred to as "Indian cline")". [ 96 ]


A 2013 study by Chaubey using the  single-nucleotide polymorphism  (SNP), shows that the genome of Andamanese people (Onge) is closer to those of other Oceanic Negrito groups than to that of South Asians. [ 97 ]


According to Basu et al. 2016, further analysis revealed that the genomic structure of mainland Indian populations is best explained by contributions from four ancestral components. In addition to the ANI and ASI, Basu et al. (2016) identified two East Asian ancestral components in mainland India that are major for the Austro-Asiatic-speaking tribals and the Tibeto-Burman speakers, which they denoted as AAA (for "Ancestral Austro-Asiatic") and ATB (for "Ancestral Tibeto-Burman") respectively. The study also infers that the populations of the  Andaman Islands  archipelago form a distinct ancestry, which "was found to be coancestral to  Oceanic  populations" but more distant from South Asians. [ 31 ]


The cline of admixture between the ANI and ASI lineages is dated to the period of c. 4.2–1.9 kya by Moorjani et al. (2013), corresponding to the Indian Bronze Age, and associated by the authors with the process of deurbanisation of the  Indus Valley civilization  and the population shift to the Gangetic system in the incipient Indian Iron Age. [ 29 ]  Basu et al. (2003) suggests that "Dravidian speakers were possibly widespread throughout India before the arrival of the Indo-European-speaking nomads" and that "formation of populations by fission that resulted in founder and drift effects have left their imprints on the genetic structures of contemporary populations". [ 70 ]  The geneticist PP Majumder (2010) has recently argued that the findings of Reich et al. (2009) are in remarkable concordance with previous research using mtDNA and Y-DNA: [ 98 ]


Central Asian populations are supposed to have been major contributors to the Indian gene pool, particularly to the northern Indian gene pool, and the migrants had supposedly moved into India through what is now Afghanistan and Pakistan. Using  mitochondrial DNA  variation data collated from various studies, we have shown that populations of Central Asia and Pakistan show the lowest coefficient of genetic differentiation with the north Indian populations, a higher differentiation with the south Indian populations, and the highest with the northeast Indian populations. Northern Indian populations are genetically closer to Central Asians than populations of other geographical regions of India... . Consistent with the above findings, a recent study using over 500,000 biallelic autosomal markers has found a north to south gradient of genetic proximity of Indian populations to western Eurasians. This feature is likely related to the proportions of ancestry derived from the western Eurasian gene pool, which, as this study has shown, is greater in populations inhabiting northern India than those inhabiting southern India.


Chaubey et al. 2015 detected a distinctive East Asian ancestral component, mainly restricted to specific populations in the foothills of Himalaya and northeastern part of India. Highest frequency of the component is observed among the Tibeto-Burmese speaking groups of northeast India and was also detected in Andamanese populations at 32%, with substantial presence also among Austroasiatic speakers. It is found to be largely absent in Indo-European and Dravidian speakers, except in some specific ethnic groups living in the Himalayan foothills and central-south India. [ 12 ]  The researchers however suggested that the East Asian ancestry (represented by the Han) measured in the studied Andamanese groups may actually reflect the capture of the affinity of the Andamanese with Melanesians and Malaysian Negritos (rather than true East Asian admixture), [ 12 ]  as a previous study by Chaubey et al. suggested "a deep common ancestry" between Andamanese, Melanesians and other Negrito groups, [ 12 ]  and an affinity between Southeast Asian Negritos and Melanesians (as well as the Andamanese) with East Asians. [ 97 ]


Lazaridis et al. (2016) notes "The demographic impact of steppe related populations on South Asia was substantial, as the  Mala , a south Indian  Dalit  population with minimal ANI (Ancestral North Indian) along the 'Indian Cline' of such ancestry is inferred to have ~ 18%  steppe-related ancestry , while the  Kalash  of Pakistan are inferred to have ~ 50%, similar to present-day northern Europeans." The study estimated (6.5–50.2%) steppe-related admixture in South Asians. Lazaridis et al. further notes that "A useful direction of future research is a more comprehensive sampling of ancient DNA from steppe populations, as well as populations of central Asia (east of Iran and south of the steppe), which may reveal more proximate sources of the ANI than the ones considered here, and of South Asia to determine the trajectory of population change in the area directly. [ 16 ]


Pathak et al. 2018 concluded that the  Indo-European  speakers of the  Gangetic Plains  and the  Dravidian  speakers have significant  Yamnaya Early-Middle Bronze Age  (Steppe_EMBA) ancestry but no Middle-Late Bronze Age Steppe (Steppe_MLBA) ancestry. On the other hand, the "North-Western Indian and Pakistani" populations (PNWI) showed significant Steppe_MLBA ancestry along with Yamnaya (Steppe_EMBA) ancestry. The study also noted that ancient South Asian samples had significantly higher Steppe_MLBA than Steppe_EMBA (or Yamnaya). The study also suggested that the  Rors  could be used as a proxy for the ANI. [ 9 ]


David Reich  in his 2018 book  Who We Are and How We Got Here  states that the 2016 analyses found the ASI to have significant amounts of an ancestry component deriving from Iranian farmers (about 25% of their ancestry), with the remaining 75% of their ancestry deriving from native South Asian hunter-gatherers. He adds that ASI were unlikely the local hunter-gatherers of South Asia as previously established, but a population responsible for spreading agriculture throughout South Asia. In the case of the ANI, the Iranian farmer ancestry is 50%, with the rest being from steppe groups related to the Yamnaya. [ 42 ]


Narasimhan et al. (2018) , similarly, conclude that ANI and ASI were formed in the 2nd millennium BCE. [ 23 ] : 15   They were preceded by a mixture of AASI (ancient ancestral south Indian, i.e. hunter-gatherers sharing a distant root with the Andamanese, Australian Aboriginals, and East Asians); and Iranian agriculturalists who arrived in India c. 4700–3000 BCE, and "must have reached the Indus Valley by the 4th millennium BCE". [ 23 ] : 15   According to Narasimhan et al., this mixed population, which probably was native to the Indus Valley Civilisation, "contributed in large proportions to both the ANI and ASI", which took shape during the 2nd millennium BCE. ANI formed out of a mixture of " Indus Periphery -related groups" and migrants from the steppe, while ASI was formed out of " Indus Periphery -related groups" who moved south and mixed further with local hunter-gatherers. The ancestry of the ASI population is suggested to have averaged about 73% from the AASI and 27% from Iranian-related farmers. Narasimhan et al. observe that samples from the Indus periphery group are always mixes of the same two proximal sources of AASI and Iranian agriculturalist-related ancestry; with "one of the Indus Periphery individuals having ~42% AASI ancestry and the other two individuals having ~14–18% AASI ancestry" (with the remainder of their ancestry being from the Iranian agriculturalist-related population). [ 23 ] : 15   The authors propose that the AASI indigenous hunter-gatherers represent a divergent branch that split off around the same time that East Asian, Onge (Andamanese) and Australian Aboriginal ancestors separated from each other. It inferred, "essentially all the ancestry of present-day eastern and southern Asians (prior to West Eurasian-related admixture in southern Asians) derives from a single eastward spread, which gave rise in a short span of time to the lineages leading to AASI, East Asians, Onge, and Australians." [ 23 ] : 15


A genetic study by Yelmen et al. (2019) found that the native South Asian genetic component, termed the  S-component , is distinct from the Andamanese, and that the Andamanese are an imperfect proxy for it. This component (when represented by the Andamanese Onge) was not detected in the northern Indian  Gujarati  samples, and hence they assumed that the South Indian tribal  Paniya people  (a group of predominantly ASI ancestry) would serve as a better source for the component in modern South Asians. However, unlike the Paniya samples, the  S-component  extracted from the tribal  Irula  samples were found to be devoid of any West Eurasian contribution, suggesting it to be a better representative of the native South Asian genetic component. Their improved results, based on "local ancestry deconvolution and masking of 500 samples from 25 South Asian populations via coalescent simulations", suggest that the AASI diverged from the common ancestor of Andamanese and East Asians shortly after these have diverged from West Eurasians. They also found that there were "multiple waves of West Eurasian arrival, as opposed to a simpler one wave scenario". [ 7 ]


Two genetic studies (Narasimhan et al. 2019 & Shinde et al. 2019) analysing remains from the Indus Valley civilisation (of parts of Bronze Age Northwest India and East Pakistan), found them to have a mixture of ancestry, both from native South Asian hunter-gatherers sharing a distant root with the Andamanese, and from a group related to Iranian farmers. The samples analyzed by Shinde derived about 50–98% of their genome from Iranian-related peoples and from 2–50% from native South Asian hunter-gatherers. The samples analyzed by Narasimhan et al. had 45–82% of Iranian farmer-related ancestry and 11–50% of South Asian hunter-gatherer origin. The analysed samples of both studies have little to none of the " Steppe ancestry " component associated with later Indo-European migrations into India. The authors found that the respective amounts of those ancestries varied significantly between individuals, and concluded that more samples are needed to get the full picture of Indian population history. [ 6 ] [ 22 ]


Studies by Watkins et al. (2005) and Kivisild et al. (2003) based on autosomal markers conclude that Indian caste and tribal populations have a common ancestry. [ 43 ] [ 99 ]  Reddy et al. (2005) found fairly uniform allele frequency distributions across caste groups of southern  Andhra Pradesh , but significantly larger genetic distance between caste groups and tribes indicating  genetic isolation  of the tribes and castes. [ 100 ]


Viswanathan et al. (2004) in a study on genetic structure and affinities among tribal populations of southern India concludes, [ 101 ]


Genetic differentiation was high and genetic distances were not significantly correlated with geographic distances. Genetic drift therefore probably played a significant role in shaping the patterns of genetic variation observed in southern Indian tribal populations.  Otherwise, analyses of population relationships showed that all Indian and South Asian populations are still similar to one another, regardless of phenotypic characteristics, and do not show any particular affinities to Africans. We conclude that the phenotypic similarities of some Indian groups to Africans  do not  reflect a close relationship between these groups, but are better explained by  convergence .


A 2011 study published in the  American Journal of Human Genetics [ 28 ]  indicates that Indian ancestral components are the result of a more complex demographic history than was previously thought. According to the researchers, South Asia harbours two major ancestral components, one of which is spread at comparable frequency and genetic diversity in populations of Central Asia, West Asia and Europe; the other component is more restricted to South Asia. However, if one were to rule out the possibility of a large-scale Indo-Aryan migration, these findings suggest that the genetic affinities of both Indian ancestral components are the result of multiple gene flows over the course of thousands of years. [ 28 ]


Modeling of the observed haplotype diversities suggests that both Indian ancestry components are older than the purported Indo-Aryan invasion 3,500 YBP. Consistent with the results of pairwise genetic distances among world regions, Indians share more ancestry signals with West than with East Eurasians.


Narasimhan et al. 2019 found Austroasiatic-speaking Munda tribals could not be modeled simply as mixture of ASI, AASI, or ANI ancestry unlike other South Asians but required additional ancestry component from Southeast Asia. They were modeled as mixture of 64% AASI, and 36% East Asian-related ancestry, represented by the  Nicobarese , thus the ancestry profile of the Mundas provides an independent line of ancestry from Southeast Asia around the 3rd millennium BCE. [ 6 ]  Lipson et al. 2018 found similar admixture results in regard to Munda tribals stating "we obtained a good fit with three ancestry components: one western Eurasian, one deep eastern Eurasian (interpreted as an indigenous South Asian lineage), and one from the Austroasiatic clade". [ 102 ]  Lipson et al. 2018 further found that the Austroasiatic source clad (proportion 35%) in Munda tribals was inferred to be closest to  Mlabri . [ 102 ]  Singh et al. 2020 similarly found Austroasiatic speakers in South Asia fall out of the South Asian cline due to their Southeast Asian genetic affinity. [ 103 ]


Origin of caste endogamy in India


Tournebize et al. [ 104 ]  analyze  founder events  spread across the world and write:


Our direct estimates of founder ages provide an independent line of evidence to understand the origin of endogamy in India. We inferred that these founder events occurred between ~120–3,500 years ago across 78 ethno-linguistic groups in India. Our dates are consistent with a previous smaller survey including 13 ethno-linguistic groups from India [18]. In a majority of the populations, the founder events occurred within the past 600–1,000 years, suggesting this period was integral to shaping endogamy in India.


Population genetics  research has been conducted on the ancestry of the modern  Turkish people  (not to be confused with  Turkic peoples ) in  Turkey . Such studies are relevant for the demographic history of the population as well as health reasons, such as population specific diseases. [ 1 ]  Some studies have sought to determine the relative genetic contributions of the  Turkic peoples  of  Central Asia , from where the  Seljuk Turks  began migrating to  Anatolia  after the  Battle of Manzikert  in 1071, which led to the establishment of the  Anatolian Seljuk Sultanate  in the late 11th century, and prior populations in the area who were  culturally assimilated  during the Seljuk and the  Ottoman  periods.


Turkish genomic variation, along with several other  Western Asian  populations, looks most similar to genomic variation of  South European  populations such as southern Italians. [ 2 ]  Western Asian genomes, including Turkish ones, have been greatly influenced by early agricultural populations in the area; later population movements, such as those of Turkic speakers, also contributed. [ 2 ]  However, the genetic variation of various populations in Central Asia "has been poorly characterized"; Western Asian populations may also be "closely related to populations in the east". [ 2 ]


Multiple studies have found similarities or common ancestry between Turkish people and present-day or historic populations in the  Mediterranean ,  West Asia  and the  Caucasus . [ 3 ] [ 4 ] [ 5 ] [ 6 ] [ 7 ] [ 8 ] [ 9 ] [ 10 ]  Several studies have also found Central Asian contributions. [ 4 ] [ 10 ] [ 11 ] [ 12 ] [ 13 ] [ 14 ]


Several studies have investigated to what extent a gene flow from Central Asia to  Anatolia  contributed to the gene pool of the Turkish people and the role of the 11th-century settlement by  Oghuz Turks .  Central Asia  is home to numerous populations that "demonstrate an array of mixed anthropological features of East Eurasians (EEA) and West Eurasians (WEA)"; two studies showed  Uyghurs  have 40-53% ancestry classified as East Asian, with the rest being classified as European; [ 15 ]  another study put the European-related ancestry at 36%. [ 16 ]  A 2018  autosomal   single-nucleotide polymorphism  study suggested that  Eurasian Steppe  slowly transitioned from  Indo European  and  Iranian -speaking groups with largely western Eurasian ancestry to increasing East Asian ancestry with Turkic and Mongolic groups in the past 4000 years, including extensive Turkic migrations out of Mongolia and slow assimilation of local populations. [ 17 ]


Two earlier (2000 and 2002) studies suggested that, although the Turks' settlement of Anatolia was of  cultural  importance, including the introduction of the  Turkish language  and  Islam , the genetic contribution from  Central Asia  may have been slight. [ 5 ] [ 18 ]  A 2020 global study looking at whole-genome sequences showed that Turks have relatively lower within-population shared identical-by-descent genomic fragments compared to the rest of the world, suggesting mixture of remote populations. [ 19 ]


A 2003 study found that some  Xiongnu  remains from Mongolia had paternal and maternal genetic lineages that have also been found in people from modern-day Turkey. [ 20 ] [ 21 ]  Most (89%) of the Xiongnu sequences in this study belonged to  Asian   maternal haplogroups , [ 22 ]  however other studies have shown a significantly higher frequency of West Eurasian maternal and paternal haplogroups in Xiongnu samples, indicating a diverse population. Contact between West and East Eurasian populations pre-dates the Xiongnu period. [ 23 ]


A study published in 2003 looked at  Human leukocyte antigen  genes to investigate the affinity of certain Mongolian tribes with Germans and Anatolian Turks. It was found that Germans and Anatolian Turks were equally distant to the Mongolian populations. No close relationship was found between Anatolian Turks and Mongolians despite the close relationship of their languages and shared historical neighborhood. [ 24 ]


A study of 75 individuals from various parts of  Turkey  concluded that the "genetic structure of the  mitochondrial DNAs  in the  Turkish  population bears some similarities to Turkic Central Asian populations". [ 25 ]


A 2001 study comparing the populations of  Mediterranean Europe  and Turkic-speaking peoples of  Central Asia  estimated the Central Asian genetic contribution to current Anatolian  Y-chromosome  loci (one binary and six  short tandem repeat ) and mitochondrial DNA gene pool to be roughly 30%. [ 13 ]  A 2004 high-resolution  SNP  analysis of Y-chromosomal DNA in samples collected from blood banks, sperm banks, and university students in eight regions of Turkey found evidence for a weak but detectable signal (<9%) of recent paternal gene flow from Central Asia. [ 4 ]  A 2006 study concluded that the true Central Asian contributions to Anatolia was 13% for males and 22% for females (with wide ranges of  confidence intervals ), and the language replacement in Turkey and might not have been in accordance with the elite dominance model. [ 11 ]  It was later observed that the male contribution from Central Asia to the Turkish population with reference to the Balkans was 13%. For all non-Turkic speaking populations, the Central Asian contribution was higher than in Turkey. [ 12 ]  According to the study, "the contributions ranging between 13%–58% must be considered with a caution because they harbor uncertainties about the state of pre-nomadic invasion and further local movements." [ 12 ]


In a 2015 study, Turkish samples were in the West  Eurasian   clade  which consisted of "all of mainland Europe, Sardinia, Sicily, Cyprus, western Russia, the Caucasus, Turkey, and Iran, and some individuals from Tajikistan and Turkmenistan." In this study, ancestry from East Asia was also visible in Turkish samples, with events after 1000 CE generally involving Asian sources being important when it comes to the ancestry of Turkey and its region. [ 26 ]


As of 2017, Central Asian genetic variation has been poorly studied, with little or no  whole genome sequencing  data for countries such as  Turkmenistan  and  Afghanistan . [ 2 ]  Therefore, future comprehensive genome-wide studies are needed. Turkish people, and other Western Asian populations, may also be closely related to Central Asian populations such as those near Western Asia. [ 2 ]


A 2021 study which looked at  whole genomes  and  whole-exomes  of 3,362 Turkish people found that the most common  Y chromosome haplogroups  were J2a, R1b, and R1a (18.4%, 14.9%, and 12.1% respectively).  Haplogroups C-M130  and  O3  ranged from 8.5% to 15.6%. Most common  mtDNA haplogroups  were H, U, and T (27.55%, 19.53%, and 10.99% respectively). [ 27 ]


An earlier 2004 study of 523 people found many Y-DNA haplogroups in Turkey. [ 4 ]  Most haplogroups in Turkey are shared with its West Asian and Caucasian neighbors. The most common haplogroup in Turkey is J2 (24%), which is widespread among Mediterranean, Caucasian, and West Asian populations. Haplogroups that are common in Europe (R1b and I; 20%), South Asia (L, R2, H; 5.7%), and Africa (A, E3*, E3a; 1%) are also present. By contrast, Central Asian haplogroups (C, Q, and O) are rarer. However, the figure may rise to 36% if K, R1a, R1b, and L—which infrequently occur in Central Asia but are notable in many other Western Turkic groups—are included. J2 is also frequently found in Central Asia, a notably high frequency (30.4%) being observed among Uzbeks. [ 28 ]


The main percentages of Y chromosome haplogroups identified in the 2004 study were as follows: [ 4 ]


Other markers that occurred in less than 1% are H,  A,  E3a,  O, and  R1*.


A 2011 study [ 34 ]  took into account oral histories and historical records. The researchers went to four settlements in Central Anatolia and chose a random selection of subjects from among university students.


In an  Afshar  village near Ankara where, according to oral tradition, the ancestors of the inhabitants came from Central Asia, the researchers found that 57% of the villagers had  haplogroup L , 13% had haplogroup Q and 3% had haplogroup N. The high rate of haplogroup L observed in this study, which is most common in  South Asia , was difficult for researchers to explain and could not be traced back to any specific geographic location, and authors said it would be difficult to associate this haplogroup with the Turkic migrations, given the paucity of evidence. [ 35 ]  Furthermore, 10% of the Afshars had haplogroups E3a and E3b, while only 13% had haplogroup J2a, the most common in Turkey.


By contrast, the inhabitants of a traditional Turkish village that had little migration had about 25% haplogroup N and 25% J2a, with 3% G and close to 30% R1 variants (mostly R1b).


A  whole-genome sequencing  study of Turkish genetics, conducted on 16 individuals, concluded that the Turkish population forms a cluster with Southern European and Mediterranean populations and that the predicted contribution from ancestral  East Asian  populations is 21.7% (presumably reflecting a  Central Asian  origin). [ 1 ]  However, that does not provide a direct estimate of a migration rate, because of factors such as the unknown original contributing populations. [ 1 ]  Given Europeans and Native Americans may share  Ancient North Eurasian  ancestry, "significant Ancient North Eurasian ancestry might also be found in Turkish genetic profiles; this requires further study". [ 1 ]


Another study in 2021, which looked at whole-genomes and  whole-exomes  of 3,362 unrelated Turkish samples, resulted in establishing the first Turkish  variome  and found "extensive admixture between Balkan, Caucasus, Middle Eastern, and European populations" in line with history of Turkey. [ 27 ]  Moreover, significant number of rare genome and exome variants were unique to modern-day Turkish population. [ 27 ]  Neighbouring populations in East and West, and Tuscan people in Italy were closest to Turkish population in terms of genetic similarity. [ 27 ]  Central Asian contribution to maternal, paternal, and autosomal genes were detected, consistent with the historical migration and expansion of  Oghuz Turks  from Central Asia. [ 27 ]  Central Asian autosomal DNA geneflow was estimated as around 10%. [ 27 ]  Using haplogroups that are only found in Central Asia, the study estimated Central Asian paternal and maternal contributions. Paternal contribution was estimated as between 8.5% to 15.6% based on  C-RPS4Y  and  O3-M122  Y-chromosome haplogroups. Maternal contributions was estimated as around 8% based on  D4c  and  G2a  mtDNA haplogroups. [ 27 ]  The authors speculated that the genetic similarity of the modern-day Turkish population with modern-day European populations might be due to  spread of neolithic Anatolian farmers into Europe , which impacted the genetic makeup of modern-day European populations. [ 27 ]  Moreover, the study found no clear genetic separation between different regions of Turkey, leading authors to suggest that recent migration events within Turkey resulted in genetic homogenization. [ 27 ]


A 2001 study that looked at  HLA   alleles  suggested that "Turks, Kurds, Armenians, Iranians, Jews, Lebanese and other (Eastern and Western) Mediterranean groups seem to share a common ancestry" and that historical populations such as Anatolian  Hittite  and  Hurrian  groups (older than 2000 B.C.) "may have given rise to present‐day Kurdish, Armenian and Turkish populations." [ 3 ]  A 2004 study that looked at 11 human‐specific  Alu  insertion  polymorphisms  among  Aromanians , Macedonians, Albanians, Romanians, Greeks, and Turks, suggested a common ancestry for these populations. [ 36 ]


A 2011 study ruled out long-term and continuing genetic contacts between Anatolia and Siberia and confirmed the presence of significant mitochondrial DNA and Y-chromosome divergence between these regions, with minimal admixture. The research also confirmed the lack of mass migration and suggested that it was irregular punctuated migration events that engendered large-scale shifts in language and culture among Anatolia's diverse autochthonous inhabitants. [ 7 ]


A study in 2015, however, wrote, "Previous genetic studies have generally used Turks as representatives of ancient Anatolians. Our results show that Turks are genetically shifted towards Central Asians, a pattern consistent with a history of mixture with populations from this region." The authors found "7.9% (±0.4) East Asian ancestry in Turks from admixture occurring 800 (±170) years ago." [ 14 ]


According to a 2012 study of ethnic Turks, "Turkish population has a close genetic similarity to Middle Eastern and European populations and some degree of similarity to South Asian and Central Asian populations." [ 37 ]  The analysis modeled each person's DNA as having originated from  K  ancestral populations and varied the parameter  K  from 2 to 7.  At  K  = 3, comparing to individuals from the Middle East (Druze and Palestinian), Europe (French, Italian, Tuscan and Sardinian) and Central Asia (Uygur, Hazara and Kyrgyz), clustering results indicated  that the contributions were 45%, 40% and 15% for the Middle Eastern, European and Central Asian populations, respectively. At  K  = 4, results for paternal ancestry were 38% European, 35% Middle Eastern, 18% South Asian, and 9% Central Asian.  At  K  = 7, results of paternal ancestry were 77% European, 12% South Asian, 4% Middle Eastern, and 6% Central Asian. However, results may reflect either previous population movements (such as migration and admixture) or genetic drift. [ 37 ]  The Turkish samples were closest to the  Adygei  population ( Circassians ) from the  Caucasus ; other sampled groups included European (French, Italian), Middle Eastern (Druze, Palestinian), and Central (Kyrgyz, Hazara, Uygur), South Asian (Indian), and East Asian (Mongolian, Han) populations. [ 37 ]


A study involving mitochondrial analysis of a  Byzantine-era  population, whose samples were gathered from excavations in the archaeological site of  Sagalassos , found that these samples were closest to modern samples from "Turkey, Crimea, Iran and Italy (Campania and Puglia), Cyprus and the Balkans (Bulgaria, Croatia, and Greece)." [ 38 ]  Modern-day samples from the nearby town of  Ağlasun  showed that lineages of East Eurasian descent assigned to  macro-haplogroup M  were found in the modern samples from Ağlasun. This haplogroup was significantly more frequent in Ağlasun (15%) than in Byzantine Sagalassos, but the study found "no genetic discontinuity across two millennia in the region." [ 39 ]


A 2019 study found that Turkish people cluster with Southern and Mediterranean Europe populations along with groups in the northern part of Southwest Asia (such as the populations from Caucasus, Northern Iraq, and Iranians). [ 8 ]  Another 2019 study found that Turkish people have the lowest fixation index distances with Caucasus population group and Iranian-Syrian group, as compared to East-Central European, European (including Northern and Eastern European), Sardinian, Roma, and Turkmen groups or populations. The Caucasus group in the study included samples from Abkhazians, Adygey, Armenians, Balkars, Chechens, Georgians, Kumyks, Kurds, Lezgins, Nogays, and North Ossetians. [ 9 ]  A 2022 study, which looked at modern-day populations and more than 700 ancient genomes from Southern Europe and West Asia covering a period of 11,000 years, found that Turkish people carry the genetic legacy of “both ancient people who lived in Anatolia for thousands of years covered by our study and people coming from Central Asia bearing Turkic languages” and that “The genetic contribution of Central Asian Turkic speakers to present-day people can be provisionally estimated by comparison of Central Asian ancestry in present-day Turkish people (~9%) and sampled ancient Central Asians (range of ~41-100%) to be between 9/100 and 9/41 or ~9-22%”. [ 10 ]


Genetic testing  is the analysis of human genes, proteins, and certain metabolites, in order to detect inherited disease-related propensities. These tests can predict the risk of disease in adults, as well as establish prenatal and infant prognoses. [ 1 ]  The benefits can be substantial, but so can the risks. The possible adverse consequences of genetic tests include discrimination in employment and health insurance and breaches of privacy. Government policies are therefore needed to assure the proper use of genetic tests. The first piece of federal legislation came into effect in 2000.


A second federal law, the  Genetic Information Nondiscrimination Act  (GINA), has two parts. Title I prohibits genetic discrimination in health insurance. Title II prohibits employment discrimination. [ 2 ]


The first of two pieces of federal legislation to directly address the use of genetic information in the United States was the  Executive Order Protecting Federal Employees . Signed into law by U.S. President  Bill Clinton  on February 8, 2000, the  Executive Order  prohibited all federal agencies and departments from using genetic information to discriminate in the hiring or promoting of federal employees. The Executive Order was endorsed by the  American Medical Association , the  American College of Medical Genetics , the  National Society of Genetic Counselors , and the  Genetic Alliance . The Executive Order also provided explicit  genetic privacy  regulations within the federal government. [ 3 ]


The second piece of federal legislation to address the use of genetic information and discrimination in the United States was the  Genetic Information Nondiscrimination Act  (GINA) of 2008. GINA protects U.S. citizens from  genetic discrimination  in employment as well as in  health care  and  health insurance . The bill was signed into law on May 21, 2008 by President  George W. Bush . Prior to the introduction of GINA in 2003, several bills of similar intent were introduced: the Genetic Privacy and Nondiscrimination Act of 1995, [ 4 ]  the Genetic Fairness Act of 1996, [ 5 ]  the Genetic Information Nondiscrimination in Health Insurance Act of 1995 [ 6 ]  and the Genetic Confidentiality and Nondiscrimination Act of 1996. [ 7 ]


GINA laws do not protect people from genetic discrimination in every circumstance. It does not apply when an employer has fewer than 15 employees. It does not cover people in the U.S. military or those receiving health benefits through the Veterans Health Administration or Indian Health Service. GINA also does not protect against genetic discrimination in forms of insurance other than health insurance, such as life, disability, or long-term care insurance. [ 8 ]


Currently, legislation pertaining to the use of genetic information and genetic discrimination at the state level varies by state. The first state laws regarding genetic information were typically designed to prohibit genetic discrimination, including prohibiting employers from demanding workers and applicants to provide genetic information as a condition of their employment. More recent laws have permitted individuals to undergo genetic testing when that individual is filing a compensation claim or has requested the test to demonstrate susceptibility to potentially toxic substances. [ 3 ]


In  human genetics ,  Haplogroup G  (M201) is a  Y-chromosome   haplogroup


None of the sampling done by research studies shown here would qualify as true random sampling, and thus any percentages of  haplogroup  G provided country by country are only rough approximations of what would be found in the full population.


In 46 samples taken in  Algeria  in a 2008 study, 2% were found to be G.  SNP testing was not done, but this one sample was predicted G based on  haplotype .  When originally tested for  SNPs , G was not an available test. [ 1 ]  In a 2011 study, none of 20 samples from  Berber   Mozabites  in Algeria were G. [ 2 ]


In a 2011 study of 577 men in the  Comoros Islands  off the southeastern African coast, 1.8% were G2a (P15+) and 0.3% were in other unspecified G categories, but none were G1. [ 3 ]


Of 147 samples from among Egyptians in  Egypt  (2004), 9% were G. [ 4 ]  And in a 2009 study, among 116 Egyptians, 6.9% were G. [ 5 ]   In a study of 35 samples from oasis el-Hayez in the western Egyptian desert area, none were G. [ 6 ]


A survey of the population of  Libya  based on testing of  SNPs  is lacking, but a close approximation for the population in  Tripoli  in the western part of the country based on the  STR  markers of 63 samples from there in the  YHRD database [ 7 ]  indicates 7.9% are G using the Athey haplogroup predictor. [ 8 ]
Of 20 Jews of Libya, 10% were found to be G. [ 9 ]  These men seemingly were then living in Israel.


In 147 samples taken in  Morocco , 1% were found to be G. [ 1 ]


In another study 1% of 312 samples in Morocco were G. [ 10 ]


Another study gathered samples only from hamlets in Morocco's Azgour Valley, where none of 33 samples were determined G. [ 11 ]  These hamlets were selected because they were felt to be typically  Berber  in composition.


A study of 20 Moroccan  Jews  found 30% were G. [ 9 ]  The tested men were then apparently living in  Israel .


In a 2011 study, in  South Africa  no G was found among 8 African men. [ 2 ]   In a 2010 study, no G found in South Africa among 343 southeastern  Bantu  speakers or 183  Khoe-San  speakers, but 5.7% of 157 South African whites were G. [ 12 ]


Among 166 samples from  Cyprus , 13.3% were G. [ 10 ]


Among 139 samples taken in  Iraq  in a 2003 study, 2.2% were found to be G. [ 13 ]   In a 2011 study, 1.4% of 143  Marsh Arabs  were found to be G, versus 1.9% of 154 other Iraqis. [ 14 ]


A 2004 study sampled 20 Iraqi Jews (apparently living in Israel), and 10% were found to be G2a (P15+). [ 9 ]    Another study of Iraqi Jews in 2010 found 10.1% of 79 men were G. [ 15 ]


Among 738 Jews in  Israel  9.8% were found to be G.  The G2a (P15+) types were in the majority, with G2b (formerly G2c) being the next most common type. [ 16 ]


Among the  Gnostic   Druze , G was found in 4% of 37 samples on the  Golan Heights ; in 14% of 183 samples in the  Galilee ; and in 12% of 35 samples in the  Carmel . [ 17 ]  Another study which sampled 20 Druze men apparently living in Israel, none had the G mutation. [ 9 ]


Among  Palestinians  apparently living in Israel, 75% of 20 samples were found to be G2a (P15+). [ 9 ]  In the same study, among  Samaritans  in Israel none of 12 samples was G. In the Human Genome Diversity Cell Line Panel (CEPH- HDGP ) "Central Israel" Palestinian sample (n=17), 59% (10) were G.


A study of 329 Druze men found 12.5% were haplogroup G. [ 15 ]  This study was not confined to Israel, but was probably mostly Israeli.


Among 273 samples taken in  Jordan , 5.5% were G. [ 5 ]


In another study, 5.9% of 101 Jordanian samples at  Amman  were G, and 0% of 45 samples in the  Dead Sea  area in Jordan were G. [ 18 ]


In 42 samples taken in  Kuwait , 2.4% were G. [ 5 ]


In a study confined to  Bedouin  tribes of Kuwait, among 148 samples 3.4% were G.  Most of these were found among the  Aniza .  All these were G2a (P15+). [ 19 ]


In 916 samples in a 2008 study from  Lebanon , 6% were G. [ 20 ]


Among 322 samples from Lebanon in a 2010 study, 7.7% were G.  Within the religious groups, 7.1% of 195 Catholic  Maronites  were G, 29.4% of 17 Greek  Catholics , 5% of 60  Greek Orthodox , 7.6% of 26  Sunni Muslims , 6.2% of 16  Shiite Muslims  and 0% of 9  Druze  men. [ 21 ]


In 29 samples from a 2008 study among the  Druze  in Lebanon, none were G in contrast to significant percentages of G among them in Syria and Israel. [ 17 ]


Of 121 samples taken among  Arabs  of  Oman , 2% were G. [ 4 ]


Among 291 samples taken in  Palestine  8.9% were G. [ 10 ]


In 72 samples taken in  Qatar , 2.8% were G.  All were G2a (P15+). [ 22 ]


Among 22 samples taken in  Saudi Arabia  in a 2005 study, 4.5% were G. [ 23 ]   In another study from 2009, of 157 Saudi samples, 0.64% were G1 and 2.55% G2. [ 24 ]


Among 356 samples taken in  Syria , 4.8% were G. [ 5 ]


In another study of Syria, 5.5% of 200 samples were G. [ 10 ]  In yet another study, 3.5% of 87 Syrian samples were G. [ 23 ]


In another study, among 26 samples taken among the  Druze  in Syria 14% were G. [ 17 ]


Among 523 samples from  Turkey  in a 2004 study, 9.2% were G. [ 25 ]   The G1/G1a samples were found only among the northeastern Turkey samples. The single G2b* was found in Kars Province in the far northeast. Of the 9.2% G total, the G samples were found in each of the following subgroups: (a) G2b*(M377+ M283-) n=1; (b) G1* (M342+) n=1; (c) G1a (P20+) n=4; (d) G2a* (P15+) n=37; (e) G2a1 (P16+) n=5; and (f) G2b (M286+) n=1.  A 2011 study retested the same samples and found that within those listed G2a* (P15+) men, 10 were G2a3a (M406) [ 26 ]


A 2011 study found that in the west central Turkish towns of  Foça  and  İzmir , 3% of 89 samples were G2a3a (M406+) and an additional 4% were unspecified other types of G. [ 26 ]


A 2012 study that sampled ethnic  Armenians  in eastern Turkey found no G1 (M285) among 207 men.  But 2% of 104 samples at  Sasun  were G2a1 (P16) with no P16 found at  Lake Van .  In contrast, G2a (P15) but not G2a1 was found in 8% of Lake Van and 11% of Sasun men. [ 27 ]


Among 87  Kurmanji -speaking  Kurds  in southeastern Turkey in a 2005 study, 2.3% were found to be G.  And among 27  Zazaki -speaking Kurds in the same area, 3.7% were G. [ 28 ]


A 2008 doctoral dissertation [ 29 ]   that sampled 140 men in four towns in central Turkey found 4 of 49 men at "town 1" were G2, 1 of 30 at "town 2", and none of 31 and 30 men respectively at "town 3" and "town 4" were G2.  However, the author only applied prediction software to STR samples to determine the haplogroups.  He concluded that the genetic diversity found suggests "multiple ancestral populations contributed to the genetic make-up of the area."  One G2 man had known origins in northeastern Turkey.


In 164 samples taken in the  United Arab Emirates , 4.2% were G.  The majority were of the G1 type. [ 22 ]


In 62 samples taken in  Yemen , 1.6% were G.  All were G2a (P15+). [ 22 ]


In another study that concentrated on the island of  Soqotra , none of 63 samples was G. [ 30 ]


In another study among 20 Jewish Yemenis, 5% were G2a (P15+) and another 5% were G1 (M285+). [ 9 ]  These men were apparently then living in Israel. A 2010 study of Jewish men found 0% of 74 Jewish men from Yemen were haplogroup G. [ 15 ]


Among 100 samples taken in  Armenia  for a 2003 study, [ 31 ]   11% were G.   And a 2011 study. [ 32 ]  found 11% of 57 Armenian samples were G1 and 11% G2a. A 2012 study found that none of 206 Armenian samples were G2a1 (P16), but 2% of 110 men in the Ararat Valley in the west and 1% of 96 men at  Gardman  in the east were G1 (M285).  Much more of G2a (P15) but not G2a1 was found, totalling 9% of the Ararat Valley men and 4.5% of Gardman men. [ 27 ]


A 2010 study that concentrated on Jewish men found 21% of 57 Jewish men from Armenia were haplogroup G. [ 15 ]  Note that Jews in Armenia are mostly recent Ashkenazi and Georgian.


Among 72 samples taken in  Azerbaijan  18% were G. [ 31 ]


In a study that concentrated on the  Talysh  of the southern tip of Azerbaijan, 3% of 40 samples were found to be G. [ 33 ]


A study that sampled Jews from Azerbaijan found 16% of 57 men were haplogroup G. [ 15 ]