Since then, population genetics has progressed significantly and studies using  direct DNA analysis  are now abundant and may use mitochondrial DNA ( mtDNA ), the non-recombining portion of the Y chromosome ( NRY ) or autosomal DNA. MtDNA and NRY DNA share some similar features which have made them particularly useful in genetic anthropology. These properties include the direct, unaltered inheritance of mtDNA and NRY DNA from mother to offspring and father to son, respectively, without the 'scrambling' effects of  genetic recombination . We also presume that these genetic loci are not affected by natural selection and that the major process responsible for changes in  base pairs  has been mutation (which can be calculated). [ 24 ]


Whereas  Y-DNA  and mtDNA haplogroups represent but a small component of a person's DNA pool, autosomal DNA has the advantage of containing hundreds and thousands of examinable genetic loci, thus giving a more complete picture of genetic composition. Descent relationships can only to be determined on a statistical basis, because autosomal DNA undergoes recombination. A single chromosome can record a history for each gene. Autosomal studies are much more reliable for showing the relationships between existing populations but do not offer the possibilities for unraveling their histories in the same way as mtDNA and NRY DNA studies promise, despite their many complications. [ citation needed ]


Nuclear DNA analysis  shows that Spanish and Portuguese populations are most closely related to other populations of western  Europe. [ 25 ] [ 26 ] [ 27 ]
There is an axis of significant genetic differentiation along the east–west direction, in contrast to remarkable genetic similarity in the north–south direction. North African admixture, associated with the  Islamic conquest , can be dated to the period between c. AD 860–1120. [ 28 ]


A study published in 2019 using samples of 271 Iberians spanning prehistoric and historic times proposes the following inflexion points in Iberian genomic history: [ 29 ]


A number of studies have focused on ascertaining the genetic impact of historical North African population movements into Iberia on the genetic composition of modern Spanish and Portuguese populations. Initial studies pointed to the  Straits of Gibraltar  acting more as a genetic barrier than a bridge during prehistorical times, [ 30 ] [ 31 ] [ 32 ]  while other studies point to a higher level of recent North African admixture among Iberians than among other European populations, [ 33 ] [ 34 ] [ 35 ] [ 36 ] [ 37 ] [ 38 ] [ 39 ]  albeit this is as a result of more recent migratory movements, particularly the Moorish invasion of Iberia in the 8th century.


In terms of autosomal DNA, the most recent study regarding African admixture in Iberian populations was conducted in April 2013 by Botigué et al. using  genome-wide SNP data for over 2000 European, Maghreb, Qatar and Sub-Saharan individuals of which 119 were Spaniards and 117 Portuguese, concluding that Spain and Portugal hold significant levels of North African ancestry. Estimates of shared ancestry averaged from 4% in some places to 12% in the general population; the populations of the  Canary Islands  yielded from 0% to 96% of shared ancestry with north Africans, although the Canary islands are a Spanish exclave located in the African continent, and thus this output is not representative of the Iberian population; these same results did not exceed 2% in other western or southern European populations. Sub-Saharan African ancestry was detected at less than 1% in Europe, with the exception of the Canary Islands. [ 41 ] [ 42 ] [ 43 ] [ 44 ]  However, contrary to past autosomal studies and to what is inferred from Y-Chromosome and Mitochondrial Haplotype frequencies (see below), it does not detect significant levels of Sub-Saharan ancestry in any European population outside the Canary Islands. Indeed, a prior 2011 autosomal study by Moorjani et al. found Sub-Saharan ancestry in many parts of southern Europe at ranges of between 1-3%,  "the highest proportion of African ancestry in Europe is in Iberia (Portugal 4.2±0.3% and Spain 1.4±0.3%), consistent with inferences based on mitochondrial DNA and Y chromosomes and the observation by Auton et al. that within Europe, the Southwestern Europeans have the highest haplotype-sharing with North Africans." [ 33 ] [ 37 ] [ 38 ]


Recent studies show minor relationships between some Iberian regions and  North African  populations as a result of the  Al-Andalus  historical period which in Portugal lasted between the 8th and 12th centuries AD, and in southern Spain continued until the late 15th century AD. Iberia is the European region that has a more prominent presence of  haplogroup E3b of the human Y chromosome  (E-M81), [ 45 ]  of haplogroup U (U6) and Haplotype Va, and this may be the result of some original common western Mediterranean population. In Portugal, North African Y-chromosome haplogroups (especially those typically North-West African) are at a frequency of 7.1%. [ 46 ]  Some studies of mitochondrial DNA also find evidence of the North African haplogroup U6, especially in northern Portugal. [ 47 ]  Although the frequency of U6 is low (4–6%), it was estimated that approximately 27% of the population of northern Portugal had some North African ancestry, as U6 is also not a common lineage in North Africa. [ 48 ]
According to some studies, the North African and Arab elements in the ancestry of today's Iberians are more than trivial when compared to the basis of pre-Islamic ancestry, and the Strait of Gibraltar seems to function more as a genetic bridge than a barrier. [ 49 ] [ 50 ] [ 51 ]


However, a study that has used different genetic markers has reached different conclusions. In an autosomal study by Spínola et al. (2005), which analyzed the  human leukocyte antigen  (HLA genes) (inherent in all ancestors in direct paternal and maternal lineages) in hundreds of individuals from Portugal, showed that the Portuguese population has been influenced by other  Europeans  and North Africans, via many ancient migrations. According to the authors, the North and the South of Portugal show a greater similarity towards North Africans as opposed to the people of the center of the country, who seem closer to other Europeans, since the North of Portugal seems to have concentrated, certainly due to the pressure of Arab expansion, an ancient genetic pole originating from many North Africans and other Europeans, influences through millennia,  [ clarification needed ]  while southern Portugal shows a North African genetic influence, probably the result of origins recent from the  Amazigh  people who accompanied the Arab expansion. [ 52 ]


According to a study published in the  American Journal of Human Genetics  in December 2008, 30% of modern Portuguese (23.6% in the north and 36.3% in the south) have  DNA  that shows they have male Sephardic Jewish ancestry and 14% (11.8 in the North and 16.1% in the South) have Moorish ancestry. [ 53 ]  Despite the possible alternative sources for lineages attributed to a Sephardic Jewish origin, these proportions were testimony to the importance of  religious conversion  (voluntary or forced), shown by historical episodes of social and  religious intolerance .


In terms of paternal Y-Chromosome DNA, recent studies coincide in that Iberia has the greatest presence of the typically  Northwest African  Y-chromosome haplotype marker E-M81 in Europe, with an average of 3%. [ 34 ] [ 35 ]  as well as Haplotype Va. [ 55 ] [ 36 ]  Estimates of Y-Chromosome ancestry vary, with a 2008 study published in the  American Journal of Human Genetics  using 1140 samples from throughout the Iberian peninsula, giving a proportion of 10.6% North African ancestry [ 37 ] [ 38 ] [ 39 ]  to the paternal composite of Iberians. A similar 2009 study of Y-chromosome with 659 samples from Southern Portugal, 680 from Northern Spain, 37 samples from Andalusia, 915 samples from mainland Italy, and 93 samples from Sicily found significantly higher levels of North African male ancestry in Portugal, Spain and Sicily (7.1%, 7.7% and 7.5% respectively) than in peninsular Italy (1.7%). [ 34 ]


Other studies  of the Iberian gene-pool have estimated significantly lower levels of North African Ancestry. According to Bosch et al. 2000 "NW African populations may have contributed 7% of Iberian Y chromosomes". [ 31 ]  A wide-ranging study by Cruciani et al. 2007, using 6,501 unrelated Y-chromosome samples from 81 populations  found that: "Considering both these E-M78 sub-haplogroups (E-V12, E-V22, E-V65) and the E-M81 haplogroup, the contribution of northern African lineages to the entire male gene pool of  Iberia  (barring Pasiegos), continental  Italy  and  Sicily  can be estimated as 5.6 percent, 3.6 percent and 6.6 percent, respectively". [ 56 ]  A 2007 study  estimated the contribution of northern African lineages to the entire male gene pool of Iberia as 5.6%." [ 57 ]  In general aspects, according to (Bosch et al. 2007) "...the origins of the Iberian Y-chromosome pool may be summarized as follows: 5% recent NW African, 78% Upper Paleolithic and later local derivatives (group IX), and 10% Neolithic" (H58, H71). [ 58 ]


Mitochondrial DNA studies of 2003, coincide in that the Iberian Peninsula holds higher levels of typically North African Haplotype U6, [ 38 ] [ 59 ]  as well as higher frequencies of Sub-Saharan African Haplogroup L in Portugal. [ 60 ] [ 61 ] [ 62 ] [ 63 ]  High frequencies are largely concentrated in the south and southwest of the Iberian peninsula, therefore overall frequency is higher in  Portugal  (7.8%) than in  Spain  (1.9%) with a mean frequency for the entire peninsula of 3.8%. There is considerable geographic divergence across the peninsula with high frequencies observed for Western Andalusia (14.6%) [ 63 ]  and Córdoba (8.3%)., [ 60 ]  Southern Portugal (10.7%), South West Castile (8%). Adams et al. and other previous publications, propose that the  Moorish occupation  left a minor  Jewish ,  Saqaliba [ 64 ]  and some  Arab-Berber  genetic influence mainly in southern regions of Iberia. [ 65 ] [ 37 ]


The most recent and comprehensive genomic studies establish that  North African  genetic ancestry can be identified throughout most of the  Iberian Peninsula , ranging from 0% to 12%, but is highest in the south and west, while being absent or almost absent in the  Basque Country  and northeast. [ 66 ] [ 18 ] [ 19 ]  Hernandez et al. (2020) identified 11.17 ± 1.87% North African ancestry in southern Portuguese samples (from a population similar to modern northern Moroccans and Algerians), 9.28 ± 1.79% of such ancestry in western Andalusians, and an average of 1.41 ± 0.72% sub-Saharan ancestry in southern Iberians (using  Yoruba  as a proxy source). [ 54 ]  Lazarids et al. (2014) detected 12.6 ± 2% North African ancestry and an average of 1.5 ± 0.2% sub-Saharan ancestry in the Spanish population. [ 67 ]


Current debates revolve around whether U6 presence is due to Islamic expansion into the Iberian peninsula or prior population movements [ 37 ] [ 38 ] [ 39 ]  and whether Haplogroup L is linked to the slave trade or prior population movements linked to Islamic expansion. A majority of Haplogroup L lineages in Iberia being North African in origin points to the latter. [ 60 ] [ 62 ] [ 33 ] [ 38 ] [ 68 ]  In 2015,  Hernández et al.  concluded that "the estimated entrance of the North African U6 lineages into Iberia at 10 ky correlates well with other L African clades, indicating that some U6 and L lineages moved together from Africa to Iberia in the Early  Holocene  while a majority were introduced during historic times." [ 69 ]


Like other Western Europeans, among Spaniards and Portuguese the Y-DNA  Haplogroup R1b  is the most frequent, occurring at over 70% throughout most of Spain. [ 70 ]  R1b is particularly dominant in the Basque Country and Catalonia, occurring at rate of over 80%.  In Iberia, most men with R1b belong to the subclade R-P312 (R1b1a1a2a1a2; as of 2017). The distribution of haplogroups other than R1b varies widely from one region to another.


In Portugal as a whole the R1b haplogroups rate 70%, with some areas in the Northwest regions reaching over 90%. [ 71 ]


Although R1b prevails in much of Western Europe, a key difference is found in the  prevalence in Iberia of R-DF27 (R1b1a1a2a1a2a). This subclade is found in over 60% of the male population in the Basque Country and 40-48% in Madrid, Alicante, Barcelona, Cantabria, Andalucia, Asturias and Galicia. [ 72 ]  R-DF27 constitutes much more than the half of the total R1b in the Iberian Peninsula. Subsequent in-migration by members of other haplogroups and subclades of R1b did not affect its overall prevalence, although this falls to only two thirds of the total R1b in  Valencia  and the coast more generally. [ 70 ]  R-DF27 is also a significant subclade of R1b in parts of France and Britain. R-S28/R-U152 (R1b1a1a2a1a2b) is the prevailing subclade of R1b in Northern Italy, Switzerland and parts of France, but it represents less than 5.0% of the male population in Iberia. Ancient samples from the central European  Bell Beaker culture ,  Hallstatt culture  and  Tumulus culture  belonged to this subclade. [ 73 ] [ 74 ] [ 75 ]  R-S28/R-U152 is slightly significant in  Seville ,  Barcelona ,  Portugal  and  Basque Country  at 10-20% of the total population, but it is represented at frequencies of only 3.0% in  Cantabria  and  Santander , 2.0% in  Castille and Leon , 6% in  Valencia , and under 1% in  Andalusia . [ 70 ]
 Sephardic Jews
 I1  0%	I2*/I2a 1%	 I2  0%	 Haplogroup R 1a 5%	R1b 13%	  G  15%  Haplogroup J2  2 25%	 J */J1 22%	  E-M215 1b1b 9%	 T  6%	 Q  2%
 [ 76 ]


Haplogroup J , mostly subclades of  Haplogroup J-M172  (J2), is found at levels of over 20% in some regions, while  Haplogroup E  has a general frequency of about 10% – albeit with peaks surpassing 30% in certain areas. Overall,  E-M78  (E1b1b1a1 in 2017)  and  E-M81  (E1b1b1b1a in 2017) both constitute about 4.0% each, with a further 1.0% from  Haplogroup E-M123  (E1b1b1b2a1) and 1.0% from unknown subclades of E-M96. [ 37 ]  (E-M81 is widely considered to represent relatively historical migrations from North Africa).


There have been a number of studies about the  mitochondrial DNA haplogroups  (mtDNA) in Europe. In contrast to Y DNA haplogroups,  mtDNA  haplogroups did not show as much geographical patterning, but were more evenly ubiquitous. Apart from the outlying  Sami , all Europeans are characterized by the predominance of haplogroups  H ,  U  and  T . The lack of observable geographic structuring of mtDNA may be due to socio-cultural factors, namely  patrilocality  and a lack of  polyandry . [ 78 ]


The subhaplogroups H1 and H3 have been subject to a more detailed study and would be associated to the  Magdalenian  expansion from Iberia c. 13,000 years ago: [ 60 ]


A 2007 European-wide study including Spanish Basques and Valencian Spaniards found Iberian populations to cluster the furthest from other continental groups, implying that Iberia holds the most ancient European ancestry. In this study, the most prominent genetic stratification in Europe was found to run from the north to the south-east, while another important axis of differentiation runs east–west across the continent. It also found, despite the differences, that all Europeans are closely related. [ 82 ]


Excerpts from the Abstract of a study published [ 86 ]  in 2015:


"[...] In the case of Portugal, previous population genetics studies have already revealed the general portrait of HVS-I and HVS-II mitochondrial diversity, becoming now important to update and expand the mitochondrial region analysed.
Accordingly, a total of 292 complete control region sequences from continental Portugal were obtained, under a stringent experimental design to ensure the quality of data through double sequencing of each target region.* Furthermore, H-specific coding region SNPs were examined to detail haplogroup classification and complete mitogenomes were obtained for all sequences belonging to haplogroups U4 and U5. In general, a typical  Western European  haplogroup or  Atlantic modal haplotype  (AMH) composition was found in mainland Portugal, associated to high level of mitochondrial genetic diversity. Within the country, no signs of substructure were detected. The typing of extra coding region SNPs has provided the refinement or confirmation of the previous classification obtained with EMMA tool in 96% of the cases. Finally, it was also possible to enlarge haplogroup U phylogeny with 28 new U4 and U5 mitogenomes."


The AMH reaches the highest frequencies in the Iberian Peninsula, in Great Britain and Ireland. In the Iberian Peninsula it reaches 70% in Portugal as a whole, with more than 90% in NW Portugal and nearly 90% in Galicia (NW Spain), while the highest value is to be found among the Basques (NE Spain).


The  Atlantic modal haplotype  (AMH) or haplotype 15 is a  Y chromosome   haplotype  of  Y-STR   microsatellite  variations, associated with the  Haplogroup R1b . It was discovered prior to many of the  SNPs  now used to identify  subclades  of R1b and references to it can be found in some of the older literature. It corresponds most closely with subclade R1b1a2a1a(1) [L11].


The AMH is the most frequently occurring haplotype amongst human males in  Atlantic Europe . It is characterized by the following marker  alleles :


Timeline


The  genetic history of Italy  includes information around the formation, ethnogenesis, and other DNA-specific information about the inhabitants of Italy. Modern  Italians  mostly descend from the  ancient peoples of Italy , including  Indo-European  speakers ( Romans  and other  Latins ,  Falisci ,  Picentes ,   Umbrians ,  Samnites ,   Oscans ,  Sicels  and  Adriatic Veneti , as well as  Magno-Greeks ,  Cisalpine Gauls  and Illyric  Iapygians ) and  pre-Indo-European  speakers ( Etruscans ,  Ligures ,  Rhaetians   Camunni ,  Sicani ,  Nuragic peoples , as well as settlers from  Phoenicia  and  Carthage ). Other groups migrated into Italy as a result of the Roman Empire, when the Italian peninsula attracted people from the various regions of the empire (North Africa, West Asia and the rest of Europe), [ 2 ]  and during the Middle Ages with the arrival of  Ostrogoths ,  Longobards ,  Saracens  and  Normans  among others. Based on DNA analysis, there is evidence of regional genetic substructure and continuity within modern Italy dating back to antiquity. [ 3 ] [ 4 ] [ 5 ] [ 6 ]


In their admixture ratios, Italians are similar to other Southern Europeans, and that is being of primarily  Neolithic   Early European Farmer  ancestry, along with smaller, but still significant, amounts of  Mesolithic   Western Hunter-Gatherer ,  Bronze Age   Steppe pastoralist  ( Indo-European  speakers) and  Chalcolithic  or Bronze Age Iranian/ Caucasus -related ancestry. [ 4 ] [ 7 ] [ 8 ] [ 9 ] [ 10 ] [ 4 ]  According to multiple genome-wide studies Southern Italians are closest to modern  Greeks , [ 11 ] [ 12 ] [ 13 ] [ 14 ] [ 15 ] [ 16 ] [ 17 ] [ 18 ] [ 19 ] [ 10 ]  while  Northern Italians  are closest to the  Spaniards , the  Portuguese  and to a lesser extent  people from Southern France . [ 11 ] [ 18 ] [ 20 ] [ 21 ] [ 22 ] [ 17 ] [ 23 ] [ 24 ] [ 25 ] [ 26 ] [ 19 ] [ 27 ]  There is also Bronze/Iron Age  West Asian  and  Middle Eastern  admixture in Italy, with a much lower incidence in Northern Italy compared with  Central Italy  and Southern Italy. [ 24 ] [ 8 ]   North African  admixture is also found in  Southern Italy  and the main islands, with the highest incidence being in  Sicily  and  Sardinia . [ 24 ] [ 8 ] [ 4 ]


Latin  samples from  Latium  in the Iron Age and early Roman  Republican  period were generally found to genetically cluster closest to modern  Northern  and  Central Italians  (four out of six were closest to Northern and Central Italians, while the other two were closest to Southern Italians). [ 28 ]  DNA analysis demonstrates that ancient  Greek colonization  had a significant lasting effect on the local genetic landscape of  Southern Italy  and Sicily ( Magna Graecia ), with modern people from that region having significant Greek admixture. [ 29 ] [ 14 ]  Overall, the genetic differentiation between the Latins,  Etruscans  and the preceding proto-Villanovan population of Italy was found to be insignificant. [ 30 ]  In 2019,  aDNA  analysis of Roman fossils detected substantial genetic ancestry shift towards central and northern European ancestry in the inhabitants of the city of Rome in late antiquity and the medieval era. The authors tentatively link the origin of this ancestry with  Visigoths  and  Lombards . Previously, most citizens in the imperial era clustered with central and east Mediterranean peoples, such as central and south Italians, Greeks, Cypriots and Maltese, and to some extent, Levantine and Near Eastern peoples. This was caused by direct immigration and contact with Greek, Phoenician and Punic diasporas. [ 2 ] [ 31 ]  A 2020 analysis of maternal haplogroups from ancient and modern samples indicates a substantial genetic similarity and continuity between the modern inhabitants of  Umbria  in central Italy and ancient inhabitants of the region belonging to the Italic-speaking  Umbrian culture . [ 6 ]


Multiple DNA studies confirmed that genetic variation in  Italy  is  clinal , going from the Eastern to the Western Mediterranean. The  Sardinians  are the exception as genetic outliers in Italy and indeed in Europe, resulting from their predominantly  Neolithic ,  Pre-Indo-European  and non-Italic  Nuragic ancestry . [ 32 ] [ 7 ] [ 8 ] [ 9 ]  Reflecting the history of Europe and the broader Mediterranean basin, the Italian populations have been found to be made up mostly of the same ancestral components, albeit in different proportions, from the  Mesolithic ,  Neolithic  and  Bronze Age  settlements of Europe. [ 24 ] [ 21 ] [ 33 ]


The genetic gap between northern and southern Italians is filled by an intermediate  Central Italian  cluster, creating a continuous cline of variation that mirrors geography. [ 25 ]  The only exceptions are some  minority populations  (mostly  Slovene  minorities from the region of  Friuli-Venezia Giulia ) who cluster with the  Slavic -speaking  Central Europeans  in  Slovenia , [ 34 ]  as well as the Sardinians, who are clearly differentiated from the populations of both mainland Italy and  Sicily . [ 21 ] [ 4 ]  A study on some linguistic and isolated communities residing in Italy revealed that their  genetic diversity  at short (0–200 km) and intermediate distances (700–800 km) was greater than that observed throughout the entire European continent. [ 5 ]


The genetic distance between Northern and Southern Italians, although large for a single European nationality, is similar to that between the  Northern  and the  Southern Germans . [ 35 ]  Northern and Southern Italians began to diverge as early as the  Late Glacial , and appear to encapsulate at a smaller scale the cline of genetic diversity observable across Europe. [ 36 ]


Modern humans appeared during the  Upper Paleolithic . Specimens of  Aurignacian  age were discovered in the cave of  Fumane  and date back about 34,000 years. During the  Magdalenian  period, the first humans from the  Pyrenees  populated  Sardinia . [ 37 ]


During the  Neolithic  period, farming was introduced by people from the east and the first villages were built. Weapons became more sophisticated and the first objects in clay were produced. In the late Neolithic era the use of  copper  spread, and villages were built over piles near lakes. In Sardinia, Sicily and a part of Mainland Italy the  Beaker culture  spread from Western and Central Europe. Sicily also suffered the influences of the Aegean in the Mycenaean period.


During the Late  Bronze Age  the  Urnfield   Proto-Villanovan culture  appeared in Central and Northern Italy. It is characterized by the rite of cremation of dead bodies, which originated from Central Europe. The use of iron began to spread. [ 38 ]  In Sardinia, the  Nuragic civilization  flourished.


At the dawn of the  Iron Age  much of Italy was inhabited by  Italic tribes  such as the  Latins ,  Sabines ,  Samnites , and  Umbrians . The Northwest and Alpine territories were populated primarily by pre-Indo European speakers such as the  Etruscans ,  Ligurians ,  Camunni  and  Raetians ; while  Iapygian  tribes, possibly of  Illyrian  origin, populated  Apulia .


From the 8th century BC,  Greek  colonists settled on the southern Italian coast and founded cities, forming what would be later called  Magna Graecia . Around the same time,  Phoenician  colonists settled on the western side of Sicily. During the same period the  Etruscan civilization  developed on the coast of Southern Tuscany and Northern  Latium . In the 4th century BC,  Gauls  settled in  Northern Italy  and in parts of  Central Italy . [ 39 ]  With the fall of the Western Roman Empire, different populations of Germanic origin invaded Italy, the most significant being the  Lombards , [ 40 ]  followed five centuries later by the  Normans  in  Sicily .


There have been a number of genetic studies of Etruscans and modern Tuscans compared with other populations, some of which indicate the local, European origin of Etruscans and others supportive of an origin from elsewhere. In general, the direct testing of ancient Etruscan DNA has supported a deep, local origin, while the testing of modern samples as a proxy for Etruscans is rather inconclusive and inconsistent. [ 41 ] [ 42 ]


The very large  mtDNA  study from 2013 indicates, based on maternally-inherited DNA from 30 bone samples taken from  tombs  dating from the eight century to the first century BC from  Tuscany  and  Lazio , that the Etruscans were a native population. [ 43 ] [ 44 ]  The study extracted and typed the hypervariable region of mitochondrial DNA of 14 individuals buried in two Etruscan necropoleis, analyzing them along with previously analyzed Etruscan mtDNA, other ancient European mtDNA, modern and  Medieval  samples from Tuscany, and 4,910 modern individuals from the  Mediterranean  basin. The ancient (30 Etruscans, 27 Medieval Tuscans) and modern DNA sequences (370 Tuscans) were subjected to several million computer simulation runs, showing that the Etruscans can be considered ancestral to Medieval and, especially in the subpopulations from Casentino and  Volterra , of modern Tuscans; modern populations from Murlo and Florence, by contrast, were shown not to continue the Medieval population. By further considering two Anatolian samples (35 and 123 individuals), it was estimated that the genetic links between  Tuscany  and  Anatolia  date back to at least 5,000 years ago, and the "most likely separation time between Tuscany and Western Anatolia falls around 7,600 years ago", strongly suggesting that the Etruscan culture developed locally, and not as an immediate consequence of immigration from the Eastern Mediterranean shores. According to the study, ancient Etruscan mtDNA is closest among modern  European  populations and is not particularly close to Anatolian or other Eastern Mediterranean populations. Among ancient populations based on mtDNA, ancient Etruscans were found to be closest to LBK Neolithic farmers from  Central Europe . [ 43 ] [ 44 ]


This result is largely in line with previous mtDNA results from 2004 (in a smaller study also based on ancient DNA), and contradictory to results from 2007 (based on modern DNA). The 2004 study was based on  mitochondrial DNA  (mtDNA) from 80 bone samples, reduced to 28 bone samples in the analysis phase, taken from  tombs  dating from the seventh century to the third century BC from  Veneto ,  Tuscany ,  Lazio  and  Campania . [ 45 ]  This study found that the ancient DNA extracted from the Etruscan remains had some affinities with modern European populations including  Germans ,  English people from Cornwall , and Tuscans in Italy. In addition the Etruscan samples possibly revealed more genetic inheritance from the eastern and southern Mediterranean than modern Italian samples contain. The study was marred by concerns that mtDNA sequences from the archeological samples represented severely damaged or contaminated DNA; [ 46 ]  however, subsequent investigation showed that the samples passed the most stringent tests of DNA degradation available. [ 47 ]


A mtDNA study, published in 2018 in the journal  American Journal of Physical Anthropology , compared both ancient and modern samples from Tuscany, from the  Prehistory , Etruscan age,  Roman age ,  Renaissance , and Present-day, and concluded that the Etruscans appear as a local population, intermediate between the prehistoric and the other samples, placing in the temporal network between the  Eneolithic Age  and the Roman Age. [ 48 ]


A 2019 genetic study published in the journal  Science  analyzed the remains of eleven  Iron Age  individuals from the areas around Rome, of which four were Etruscan individuals, one buried in  Veio Grotta Gramiccia  from the Villanovan period (900-800 BC) and three buried in La Mattonara Necropolis near  Civitavecchia  from the Orientalizing period (700-600 BC). The study concluded that Etruscans (900–600 BC) and the  Latins  (900–500 BC) from  Latium vetus  were genetically similar., [ 49 ]  genetic differences between the examined Etruscans and Latins were found to be insignificant. [ 50 ]  The Etruscan individuals and contemporary Latins were distinguished from preceding populations of Italy by the presence of 30.7%  steppe ancestry . [ 51 ]  Their DNA was a mixture of two-thirds  Copper Age  ancestry ( EEF  +  WHG ; Etruscans ~66–72%, Latins ~62–75%) and one-third  Steppe-related ancestry  (Etruscans ~27–33%, Latins ~24–37%) (with the EEF component mainly deriving from Neolithic-era migrants to Europe from Anatolia and the WHG being local Western European hunter-gatherers, with both components, along with that from the steppe, being found in virtually all European populations). [ 49 ]  The only sample of  Y-DNA  extracted belonged to  haplogroup J-M12 (J2b-L283) , found in an individual dated 700-600 BC, and carried exactly the  M314  derived allele also found in a Middle Bronze Age individual from  Croatia  (1631-1531 calBCE). While the four samples of  mtDNA  extracted belonged to haplogroups  U5a1 ,  H ,  T2b32 ,  K1a4 . [ 52 ]  Therefore, Etruscans had also Steppe-related ancestry despite speaking a pre-Indo-European language.


A 2021 study by the  Max Planck Institute , the  Universities of Tübingen ,  Florence , and  Harvard , published in the journal  Science Advances , analyzed the  Y-chromosome ,  mitochondrial DNA , and  autosomal DNA  of 82 ancient samples from Etruria (Tuscany and Latium) and southern Italy (Basilicata) spanning from 800 BC to 1000 AD, including 48 Iron Age individuals. The study confirmed that in the samples of Etruscan individuals from Tuscany and Lazio the ancestral component  Steppe  was present in the same percentages found in the previously analyzed samples of Iron Age Latins, and added that in the DNA of the Etruscans was completely absent, a signal of recent admixture with Anatolia or the Eastern Mediterranean. The study concluded that the Etruscans were autochthonous and they had a genetic profile similar to that of their early Iron Age Latin neighbors. Both Etruscans and Latins belonged firmly to the European cluster: 75% of the samples of Etruscan male individuals were found to belong to haplogroup  R1b , especially R1b-P312 and its derivative R1b-L2 whose direct ancestor is R1b-U152. Regarding mitochondrial DNA haplogroups, the most prevalent was largely H, followed by J and T. Uniparental marker data and autosomal DNA data from samples of Iron Age Etruscan individuals suggest that Etruria received migrations with a large ancestral Steppe component during the  2nd millennium BC , related to the spread of  Indo-European languages , starting with the  Bell Beaker culture , and that these migrations merged with populations of the oldest pre-Indo-European layer present since at least the Neolithic period, but it was the latter's language that survived, a situation similar to what happened in the  Basque region  of northern  Spain . The study also concluded that the samples analyzed show that the Etruscans kept their genetic profile unchanged for almost 1000 years, indicating the sparse presence in Etruria of foreigners, and that a demographic change in Etruria occurred only from the  Roman imperial period , in which there is the intermixture into the local population of ancestral components from the Eastern Mediterranean Sea. Analysis of samples of individuals who lived in the Roman imperial period and those of the Medieval Age also suggest that the genetic landscape of present-day central Italy was formed largely around 1000 years ago after the  Barbarian invasions , and that the arrival of the Germanic  Lombards  in Italy contributed to the formation of the gene pool of the modern population of Tuscany and northern Latium. [ 53 ]


In 2024, 6 individuals of Etruscan remains from  Tarquinia ,  Lazio , dated the 9th-7th Century BC, were studied and confirmed the previous finds. The admixture model showed that they were 84-92% Italy Bell Beaker and 8-26% additional Yamnaya Samara (Steppe-related) ancestry, but with one individual being more similar to Iron Age populations from Scandinavia, and north-west Europe. The two male individuals studied for Y-Chromosome belonged to the J2b/J-M12 lineage, and the five studied mitochondrial haplogroups were typical of post-Neolithic Europe. Phenotypic traits showed blue-eyes, light/dark brown hair, and pale to intermediate skin tones. [ 54 ]


An mtDNA study from 2007, by contrast, earlier suggested a  Near Eastern  origin. [ 55 ]  Achilli  et al . (2007) found in a modern sample of 86 individuals from Murlo, a small town in southern Tuscany, an unusually high frequency (17.5%) of supposed Near Eastern mtDNA haplogroups, while other Tuscan populations do not show the same striking feature. Based on this result Achilli concluded that "their data support the scenario of a post-Neolithic genetic input from the Near East to the present-day population of Tuscany, a scenario in agreement with the Lydian origin of Etruscans". This research has been much criticized by archeologists, etruscologists and classicists. [ 56 ]  In the absence of any dating evidence, there is no direct link between this genetic input found in Murlo and the Etruscans. Furthermore, there is no evidence that these mtDNA haplogroups found in Murlo might be proof of an eastern origin of the Etruscans, as some of these mtDNA haplogroups have been found in other studies as early as the  Neolithic  and  Aeneolithic  in Italy and Germany. [ 48 ]  All the mtDNA haplogroups found in the modern sample from Murlo and classified by Achilli et al. as of Near Eastern origin are actually widespread in modern samples from other areas of Italy and Europe with no link with the Etruscans. [ 57 ]


A recent Y-DNA study from 2018 on a modern sample of 113 individuals from  Volterra , a town of Etruscan origin, Grugni at al. keeps all the possibilities open, although the autochthonous scenario is the most supported by numbers, and concludes that "the presence of  J2a-M67*  (2.7%) suggests contacts by sea with Anatolian people, the finding of the Central European lineage  G2a-L497  (7.1%) at considerable frequency would rather support a Northern European origin of Etruscans, while the high incidence of European R1b lineages (R1b 49.8%, R1b-U152 24.5%) cannot rule out the scenario of an autochthonous process of formation of the Etruscan civilization from the preceding Villanovan society, as suggested by Dionysius of Halicarnassus". [ 58 ]  In Italy Y-DNA J2a-M67*, not yet found in Etruscan samples, is more widespread on the Adriatic Sea coast between  Marche  and  Abruzzo , and not in those where once lived the Etruscans, and in the study has its peak in the Ionian side of  Calabria . [ 59 ] [ 60 ]  In 2014, a late Bronze Age  Kyjatice culture  sample in  Hungary  was found to be J2a1-M67, [ 61 ]  a couple of J2a1b were found in Late Neolithic samples from the  LBK culture  in  Austria , [ 62 ]  a J2a1a was found in a Middle Neolithic  Sopot culture  sample from  Croatia , [ 62 ]  a J2a was found in a Late Neolithic  Lengyel Culture  sample from  Hungary . [ 63 ]  In 2019, in a Stanford study published in Science, two ancient samples from the Neolithic settlement of Ripabianca di Monterado in the  province of Ancona , in the Marche region of Italy, were found to be Y-DNA J-L26 and J-M304. [ 49 ]  In 2021, two more ancient samples from the Chalcolitich settlement of Grotta La Sassa, in the  province of Latina  in southern  Lazio , were found to be Y-DNA J2a7-Z2397. [ 64 ]  Therefore, Y-DNA J2a-M67 is likely in Italy since the Neolithic and can't be the proof of recent contacts with Anatolia.


Recent studies on the population structure of modern-day Italians have shown that in Italy there is a north–south cline for Y-chromosome lineages and autosomal loci, with a clear differentiation of peninsular Italians from Sardinians, and that modern Tuscans are the population of  central Italy  closest genetically to the inhabitants of  northern Italy . [ 65 ]  A 2019 study, based on autosomal DNA of 1616 individuals from all 20 Italian administrative regions, concludes that Tuscans join the northern Italian cluster, close to the inhabitants of  Liguria  and  Emilia-Romagna . [ 66 ]  A 2013 study, based on uniparental markers of 884 unrelated individuals from 23 Italian locations, had shown that the structure observed for the paternal lineages in continental Italy and Sicily suggests a shared genetic background between people from Tuscany and Northern Italy from one side, and people from Southern Italy and the Adriatic coast from the other side. The most frequent Y-DNA haplogroups in the group represented by populations from North-Western Italy, including Tuscany and most of the Padana plain, are four R1b-lineages (R-U152*, R-M269*, R-P312* and R-L2*). [ 60 ]


In the collective volume  Etruscology  published in 2017, British archeologist Phil Perkins provides an analysis of the state of DNA studies and writes that "none of the DNA studies to date conclusively prove that Etruscans were an intrusive population in Italy that originated in the Eastern Mediterranean or Anatolia" and "there are indications that the evidence of DNA can support the theory that Etruscan people are autochthonous in central Italy". [ 42 ]


Many  Italians , especially in Northern Italy and Central Italy, belong to  Haplogroup R1b , common in Western and Central Europe. The highest frequency of R1b is found in  Garfagnana  (76.2%) in  Tuscany  and in the Bergamo Valleys (80.8%) in  Lombardy . [ 68 ] [ 69 ]  This percentage lowers in the south of Italy in  Calabria  (33.2%). [ 68 ]  On the other hand 39% of the Sardinians belong to Mesolithic European haplogroup  I2a1a . [ 70 ] [ 71 ]


A study from the  Università Cattolica del Sacro Cuore  found that while Greek colonization left little significant genetic contribution, data analysis sampling 12 sites in the Italian peninsula supported a male  demic diffusion  model and Neolithic admixture with  Mesolithic  inhabitants. [ 72 ]  The results supported a distribution of genetic variation along a north–south axis and supported demic diffusion. South Italian samples clustered with southeast and south-central European samples, and northern groups with West Europe. [ 72 ] [ 73 ]


A 2004 study by Semino et al. showed that Italians from the north-central regions had around 26.9% J2; the Apulians, Calabrians and  Sicilians  had 29.1%, 21.5% and 16.7% J2 respectively; the  Sardinians  had 9.7% J2. [ 74 ]


A 2018 genetic study, focusing on the  Y-chromosome  and haplogroups lineages, their diversity and their distribution by taking some 817 representative subjects, gives credit to the traditional northern-southern division in population, by concluding that due to Neolithic migrations southern Italians "show a higher similarity with  Middle Eastern  and Southern  Balkan  populations than northern ones; conversely,  northern  samples are genetically closer to  North-West Europe  and Northern Balkan groups". The position of  Volterra  in central  Tuscany  keeps the debate about the origins of  Etruscans  open, although the numbers are strongly in favor of the autochthonous thesis: the low presence of J2a-M67* (2.7%) suggests contacts by sea with Anatolian people; the presence of Central European lineage G2a-L497 (7.1%) at considerable frequency would rather support a  Central European  origin of the Etruscans; and finally, the high incidence of European R1b lineages (R1b 50% approx., R1b-U152 24.5%) — especially of haplogroup R1b-U152 — could suggest an autochthonous origin due to a process of formation of the Etruscan civilisation from the preceding  Villanovan culture , following the theories of  Dionysius of Halicarnassus , [ 68 ]  as already supported by archaeology, anthropology and linguistics. [ 75 ] [ 76 ] [ 77 ] [ 78 ]  In 2019, in a Stanford study published in Science, two ancient samples from the Neolithic settlement of Ripabianca di Monterado in  province of Ancona , in the Marche region of Italy, were found to be Y-DNA J-L26 and J-M304. [ 2 ]  Therefore, Y-DNA J2a-M67, downstream to Y-DNA J-L26 and J-M304, is most likely in Italy since the Neolithic and can't be the proof of recent contacts with Anatolia.


In two villages in  Lazio  and  Abruzzo  ( Cappadocia  and  Vallepietra ),  I1  is the most common Y-DNA, recorded at levels 35% and 28%. [ 79 ]  In  Sicily , further migrations from the  Vandals  and  Saracens  have only slightly affected the ethnic composition of the Sicilian people. However, specifically  Greek  genetic legacy is estimated at 37% in Sicily. [ 29 ]


The  Norman conquest of southern Italy  caused the  Norman Kingdom of Sicily  to be created in 1130, with Palermo as capital, 70 years after the initial Norman invasion and 40 after the conquest of the last town, Noto in 1091, and would last until 1198. Nowadays it is in central and western Sicily, that Norman Y-DNA is common, with 15% to 20% of the lineages belonging to  haplogroup I , this percentage drops to 8% in the eastern part of the island. The  North African   male contribution to Sicily  was estimated between 0% and 7.5%. [ 80 ] [ 14 ] [ 81 ]  Overall, the estimated Southern Balkan and Western European paternal contributions in Sicily are about 63% and 26% respectively. [ 81 ]


A 2015 genetic study of six small mountain villages in eastern  Lazio  and one mountain community in nearby western  Abruzzo  found some genetic similarities between these communities and  Near Eastern  populations, mainly in the male genetic pool. The  Y haplogroup Q , common in  Western Asia  and  Central Asia , was also found among this sample population, suggesting that in the past could have hosted a settlement from Anatolia. [ 79 ]  Also, it is about 0.6% in continental  Italy , but it rises to 2.5% (6/236) in  Sicily , where it reaches 16.7% (3/18) in  Mazara del Vallo  region, followed by 7.1% (2/28) in  Ragusa , 3.6% in  Sciacca , [ 29 ]  and 3.7% in  Belvedere Marittimo . [ 82 ]


In Italy as elsewhere in Europe the majority of mtDNA lineages belong to the  haplogroup H . Several independent studies conclude that haplogroup H probably evolved in  West Asia  c. 25,000 years ago. It was carried to Europe by migrations c. 20–25,000 years ago, and spread with population of the southwest of the continent. [ 83 ] [ 84 ]  Its arrival was roughly contemporary with the rise of the  Gravettian  culture. The spread of subclades H1, H3 and the sister  haplogroup V  reflect a second intra-European expansion from the  Franco-Cantabrian region  after the  last glacial maximum , c. 13,000 years ago. [ 83 ] [ 85 ]


African  Haplogroup L  lineages are relatively infrequent (less than 1%) throughout Italy with the exception of  Latium ,  Volterra ,  Basilicata  and  Sicily  where frequencies between 2 and 3% have been found. [ 86 ]


A study in 2012 by Brisighelli et al. stated that an analysis of  ancestral informative markers  "as carried out in the present study indicated that Italy shows a very minor sub-Saharan African component that is, however, slightly higher than non-Mediterranean Europe." Discussing African mtDNAs the study states that these indicate that a significant proportion of these lineages could have arrived in Italy more than 10,000 years ago; therefore, their presence in Italy does not necessarily date to the time of the Roman Empire, the Atlantic slave trade or to modern migration." [ 33 ]  These mtDNAs by Brisighelli et al. were reported with the given results as "Mitochondrial DNA haplotypes of African origin are mainly represented by haplogroups M1 (0.3%), U6 (0.8%) and L (1.2%) for the 583 samples tested. [ 33 ]  The haplogroups M1 and U6 can be considered to be of  North African  origin and could therefore be used to signal the documented African historical input. Haplogroup M1 was observed in only two carriers from Trapani (West Sicily), while U6 was observed only in Lucera, South Apulia, and another at the tip of the Peninsula (Calabria). [ 33 ]


A 2013 study by Alessio Boattini et al. found 0 of African L haplogroup in the whole Italy out of 865 samples. The percentages for Berber M1 and U6 haplogroups were 0.46% and 0.35%, respectively. [ 87 ]


A 2014 study by Stefania Sarno et al. found 0 of African L and M1 haplogroups in mainland Southern Italy out of 115 samples. Only two Berber U6 out of 115 samples were found, one from Lecce and one from Cosenza. [ 81 ]


A close genetic similarity between  Ashkenazim  and Italians has been noted in genetic studies, possibly due to the fact that Ashkenazi Jews have a significant European admixture (30–60%), much of it Southern European, a lot of which came from Italy when  Jewish diaspora  males of Middle Eastern origin migrated to Rome and found wives among local women who then converted to  Judaism . [ 88 ] [ 89 ] [ 90 ] [ 91 ] [ 92 ] [ 22 ] [ 93 ]  More specifically, Ashkenazi Jews could be modeled as being 50% Levantine and 50% European, with an estimated mean South European admixture of 37.5%. Most of it (30.5%) seems to derive from an Italian source. [ 94 ] [ 95 ]


A 2010 study of  Jewish genealogy  found that with respect to non-Jewish European groups, the populations which are most closely related to Ashkenazi Jews are modern-day Italians followed by the French and Sardinians. [ 96 ] [ 97 ]


Recent studies have shown that Italy played an important role in the recovery of " Western Europe " at the end of the  Last glacial period . The study which was focused on the mitochondrial U5b3 haplogroup discovered that this female lineage had in fact originated in Italy and around 10,000 years ago it expanded from the Peninsula towards  Provence  and the  Balkans . In Provence, probably between 9,000 and 7,000 years ago, it gave rise to the haplogroup subclade U5b3a1. This subclade U5b3a1 later came from Provence to the island of  Sardinia  by way of obsidian merchants, because it is estimated that 80% of the obsidian which is found in France comes from  Monte Arci  in Sardinia, reflecting the close relationship which once existed between these two regions. Still about 4% of the female population of Sardinia belongs to this haplotype. [ 98 ]


A mtDNA study, published in 2018 in the journal  American Journal of Physical Anthropology , compared both ancient and modern samples from Tuscany, from the  Prehistory , Etruscan age,  Roman age ,  Renaissance , and Present-day, and concluded that the Etruscans appear as a local population, intermediate between the prehistoric and the other samples, placing in the temporal network between the  Eneolithic Age  and the Roman Age. [ 99 ]


A 2020 analysis of maternal haplogroups from ancient and modern samples in the central Italian region of Umbria finds a substantial genetic similarity among modern Umbrians and the area's pre-Roman inhabitants, and evidence of substantial genetic continuity in the region from pre-Roman times to the present. Both modern and ancient Umbrians were found to have high rates of mtDNA haplogroups U4 and U5a, and an overrepresentation of J (at roughly 30%). The study also found that, "local genetic continuities are further attested to by six terminal branches (H1e1, J1c3, J2b1, U2e2a, U8b1b1 and K1a4a)" also shared by ancient and modern Umbrians. [ 6 ]


Wade et al. (2008) determined that Italy is one of the last two remaining genetic islands in Europe, the other being  Finland . This is due in part to the presence of the Alpine mountain chain which, over the centuries, has prevented large migration flows.  [ 101 ]


Recent genome-wide studies have been able to detect and quantify admixture like never before. Li et al. (2008), using more than 600,000 autosomal SNPs, identify seven global population clusters, including European, Middle Eastern and Central/South Asian. All the Italian samples belong to Central-Western group with minor influences dating to Neolithic period. [ 102 ]


López Herráez et al. (2009) typed the same samples at close to 1 million SNPs and analyzed them in a Western Eurasian context, identifying a number of subclusters. This time, all of the European samples show some minor admixture. Among the Italians, Tuscany still has the most, and Sardinia has a bit too, but so does Lombardy (Bergamo), which is even farther north. [ 103 ]


A 2011 study by Moorjani et al. found that many southern Europeans have inherited 1–3% Sub-Saharan ancestry, although the percentages were lower (0.2–2.1%) when reanalyzed with the 'STRUCTURE' statistical model. An average admixture date of around 55 generations/1100 years ago was also calculated, "consistent with North African gene flow at the end of the Roman Empire and subsequent Arab migrations" [ 104 ]


A 2012 study by Di Gaetano et al. used 1,014 Italians with wide geographical coverage. It showed that the current population of Sardinia can be clearly differentiated genetically from mainland Italy and Sicily, and that a certain degree of genetic differentiation is detectable within the current Italian peninsula population.


By using the ADMIXTURE software, the authors obtained at K = 4 the lowest cross-validation error. The HapMap CEU individuals showed an average Northern Europe (NE) ancestry of 83%. A similar pattern is observed in French, Northern Italian and Central Italian populations with a NE ancestry of 70%, 56% and 52% respectively. According to the PCA plot, also in the ADMIXTURE analysis there are relatively small differences in ancestry between Northern Italians and Central Italians while Southern Italians showed a lower average admixture NE proportion (44%) than Northern and Central Italy, and a higher Caucasian ancestry of 28%. The Sardinian samples display a pattern of crimson common to the others European populations but at a higher frequency (70%).
The average admixture proportions for Northern European ancestry within current Sardinian population is 14.3% with some individuals exhibiting very low Northern European ancestry (less than 5% in 36 individuals on 268 accounting the 13% of the sample). [ 21 ]


A 2013 study by Peristera Paschou et al. confirms that the Mediterranean Sea has acted as a strong barrier to gene flow through geographic isolation following initial settlements. Samples from (Northern) Italy, Tuscany, Sicily and Sardinia are closest to other Southern Europeans from Iberia, the Balkans and Greece, who are in turn closest to the Neolithic migrants that spread farming throughout Europe, represented here by the Cappadocian sample from Anatolia. But there hasn't been any significant admixture from the Middle East or North Africa into Italy and the rest of Southern Europe since then. [ 17 ]


Ancient DNA analysis reveals that Ötzi the Iceman clusters with modern Southern Europeans and closest to Italians (the orange "Europe S" dots in the plots below), especially those from the island of Sardinia. Other Italians pull away toward Southeastern and Central Europe consistent with geography and some post-Neolithic gene flow from those areas (e.g. Italics, Greeks, Etruscans, Celts), but despite that and centuries of history, they're still very similar to their prehistoric ancestor. [ 105 ]


A 2013 study by Botigué et al. 2013 applied an unsupervised clustering algorithm, ADMIXTURE, to estimate allele-based sharing between Africans and Europeans. Regarding Italians, the North African ancestry does not exceed 2% of their genomes. On average, 1% of Jewish ancestry is found in Tuscan HapMap population and Italian Swiss, as well as Greeks and Cypriots. Contrary to past observations, Sub-Saharan ancestry is detected at <1% in Europe, with the exception of the Canary Islands. [ 81 ]


Haak et al. (2015) conducted a genome wide study of 94 ancient skeletons from Europe and Russia. The study argues that Bronze Age steppe pastoralists from the  Yamna culture  spread Indo-European languages in Europe. Autosomic tests indicate that the Yamnaya-people were the result of admixture between two different hunter-gatherer populations:  Eastern Hunter-Gatherers  from the Russian Steppe and either Caucasus Hunter-Gatherers or Chalcolithic Iranians (who are very similar). Wolfgang Haak estimated a 27% ancestral contribution of the Yamnaya in the DNA of modern  Tuscans , a 25% ancestral contribution of the Yamnaya in the DNA of modern  Northern Italians  from  Bergamo , excluding Sardinians (7%), and to a lesser extent Sicilians (12%). [ 20 ]


A 2016 study Sazzini et al., confirms the results of previous studies by Di Gaetano et al. (2012) and Fiorito et al. (2015) but has much better geographical coverage of samples, with 737 individuals from 20 locations in 15 different regions being tested. The study also for the first time includes a formal admixture test that models the ancestry of Italians by inferring admixture events using all of the Western Eurasian samples. The results are very interesting in light of the ancient DNA evidence that has come out in the last couple years:


In addition to the pattern described in the main text, the SARD sample seemed to have played a major role as source of admixture for most of the examined populations, especially Italian ones, rather than as recipient of migratory processes. In fact, the most significant f3 scores for trios including SARD indicated peninsular Italians as plausible results of admixture between SARD and populations from  Iran ,  Caucasus  and  Russia . This scenario could be interpreted as further evidence that Sardinians retain high proportions of a putative ancestral genomic background that was considerably widespread across Europe at least until the Neolithic and that has been subsequently erased or masked in most of present-day European populations. [ 25 ]


Sarno et al. (2017) concentrate on the genetic impact brought by the historical migrations around the Mediterranean on  Southern Italy  and Sicily, and conclude that the "results demonstrate that the genetic variability of present-day Southern Italian populations is characterized by a shared genetic continuity, extending to large portions of central and eastern Mediterranean shores", while showing that "Southern Italy appear more similar to the Greek-speaking islands of the Mediterranean Sea, reaching as far east as  Cyprus , than to samples from continental Greece, suggesting a possible ancestral link which might have survived in a less admixed form in the islands", also precises how "besides a predominant  Neolithic -like component, our analyses reveal significant impacts of Post-Neolithic  Caucasus - and  Levantine -related ancestries." [ 14 ]  A news article associated with the  Max Planck Society , reviewing the results, while beginning by stating that "populations along the eastern Mediterranean coast share a genetic heritage that transcends nationality", also points out how this study is interesting on the debates concerning the diffusion of the  Indo-European languages  family in Europe, as, while showcasing the influence from the  Caucasus , there's no genetic marker associated with the  Pontic–Caspian steppe , "a very characteristic genetic signal well represented in North-Central and Eastern Europe, which previous studies associated with the introduction of Indo-European languages to the continent." [ 14 ]


Raveane et al. (2019) discovered in a genome-wide study on modern-day Italians a contribution of  Caucasus Hunter-Gatherers  from the third millennium Anatolian Bronze Age, predominantly in  Southern Italy.
Furthermore, patterns of regional variation showed geographical structure in Southern Italy, Northern Italy, and Sardinia, in line with previous studies. Even more detailed structure was observed between subregional clusters, caused by geography and distance, and historical admixture possibly associated with events at the end of the Roman Empire and during subsequent periods. [ 4 ]


Antonio et al. (2019) studied historical populations from various time periods in  Latium  and Rome. They found that, despite the linguistic differences, the   Latins  and the  Etruscans  showed no significant genetic differences. Their  autosomal DNA  was a mixture in similar proportions of  Western Hunter-Gatherers  (Mesolithic),  Early European Farmers  (Neolithic), and  Western Steppe Herders  (Bronze Age). [ 2 ]


A 2022 genome-wide study of more than 700 individuals from the South Mediterranean area (102 from Southern Italy), combined with ancient DNA from neighbouring areas, found high affinities of South-Eastern Italians with modern Eastern  Peloponnesians , and a closer affinity of ancient Greek genomes with those from specific regions of South Italy than modern Greek genomes. The study also discovered common genetic sources shared between South Italy and Peloponnese, which can be modeled as a mixture of Anatolian Neolithic and Iranian Chalcolithic ancestries. [ 106 ]


Monnereau et al (2024) analyzed burials at the site of  Segesta  to investigate the interactions between  Muslim  and  Christian  communities during the Middle Ages in Sicily. The biomolecular and Isotopic results suggest the Christians remained genetically distinct from the Muslim community at Segesta while following a substantially similar diet. Based on these results, the authours suggest that the two communities at Segesta could have followed endogamy rules. [ 107 ]


In  population genetics , research has been done on the genetic origins of modern  Japanese people .


From the point of view of genetic studies, Japanese people:


A common origin of Japanese has been proposed by a number of scholars since Arai Hakuseki first brought up the theory and Fujii Sadamoto, a pioneer of modern archaeology in Japan, also treated the issue in 1781. [ 16 ]  But after the end of  World War II , Kotondo Hasebe and Hisashi Suzuki claimed that the origin of Japanese people was not the newcomers in the  Yayoi period  (300 BCE – 300 CE) but the people in the  Jōmon period . [ 17 ]  However, Kazuro Hanihara announced a new  racial admixture  theory in 1984. [ 17 ]  Hanihara also announced the theory "dual structure model" in English in 1991. [ 18 ]  According to Hanihara, modern Japanese lineages began with  Jōmon people , who moved into the  Japanese archipelago  during the  Paleolithic . Hanihara believed that there was a second wave of  immigrants , from  northeast Asia  to Japan from the Yayoi period. Following a population expansion in  Neolithic  times, these newcomers then found their way to the Japanese archipelago sometime during the Yayoi period. As a result,  miscegenation  was common in the island regions of  Kyūshū ,  Shikoku , and  Honshū , but did not prevail in the outlying islands of  Okinawa  and  Hokkaidō , and the Ryukyuan and Ainu people continued to dominate there.  Mark J. Hudson  claimed that the main ethnic image of Japanese people was biologically and linguistically formed from 400 BCE to 1,200 CE. [ 17 ]  Currently, the most well-regarded theory is that present-day Japanese are descendants of both the indigenous Jōmon people and the immigrant Yayoi people.


On the other hand, a study published in October 2009 by the  National Museum of Nature and Science   et al.  concluded that the  Minatogawa Man , who was found in Okinawa and was regarded as evidence that the Jōmon people were not a homogenous group and that these southern Jōmon came to Japan via a southern route and had a slender and more  neo-Mongoloid  face unlike the northern Jōmon. [ 19 ]  Hiroto Takamiya of the  Sapporo University  suggested that the people of Kyushu immigrated to Okinawa between the 10th and 12th centuries CE. [ 20 ] [ 21 ]   Regardless, both northern and southern Jōmon were craniofacially different from modern mainland Japanese and had European-like features [ 22 ]  and a 'well-defined and less flat upper face' respectively. [ 23 ]  But they still had hair and teeth morphology that was characteristic of East Asian peoples, especially northern Jōmon. [ 22 ]


The modern  Japanese  cluster is said to be the most similar with the  Korean  one; in a  haplotype-based study , the Japanese cluster was found to share 87–94% of its genetic components with the Korean cluster, compared with a  Han Chinese  result of only 0–8%, a distinct contrast. Moreover, the genetic affinity to the Korean cluster was particularly strong among a cluster hailing from  Shimane  specifically and  Honshu  more broadly, but relatively less pronounced, albeit still overwhelming, in the  Kyushu  clusters. In any case, however, the study clarifies that "the estimate of ancestry profile cannot provide the definitive history of original migration, unless it will be further verified against historical evidence. [ 29 ]  Some studies suggest a genetic connection between Koreans and Southeast Asian populations. A 2017 study by Ulsan University analyzed a 7,700-year-old skull in Korea, finding evidence of genetic links to ancient populations, including those from Southeast Asia, such as Vietnamese people. This research highlights the complex migration patterns in East Asia’s prehistory. [ 30 ]  Similarly, Japanese research conducted in 1999 proposed that the Yayoi people, an ancient population contributing to modern Japanese ancestry, may have migrated from the Yangtze River basin in southern China. This was supported by DNA analyses showing similarities between Yayoi remains in southwestern Japan and early Han Dynasty remains from China’s Jiangsu Province. [ 31 ]  However, other studies suggest that modern Koreans share closer genetic ties with Central Asian and northern East Asian populations. A mitochondrial DNA analysis revealed a genetic affinity between Koreans and Mongolians, indicating a shared Central Asian ancestry. Additionally, genetic research suggests that while Koreans share some common ancestry with other East Asian populations, their genetic ties with the Chinese are relatively more distant. [ 32 ]  Genome-wide studies further demonstrate that Koreans are genetically closest to Yamato Japanese and Manchu populations, reflecting shared ancestry and historical interactions, while genetic connections between Koreans and Southeast Asians are more limited. [ 33 ] [ 34 ]


Recent studies have revealed that Jomon people are considerably genetically different from any other population, including modern-day Japanese.


Some theories propose that the  Yayoi people  introduced  wet rice cultivation  to Japan from the  Korean Peninsula  and  Jiangnan  near the  Yangtze River Delta  in ancient China. [ 48 ] [ page needed ]  Additionally, some scholars suggest that the Yayoi and their ancestors, the  Wajin , may have originated from areas like  Yunnan  province in southern China. [ 49 ]  Suwa Haruo [ 50 ]  argued that  Wa-zoku (Wajin)  might have been related to the  Baiyue  (百越). [ 51 ]


A September 2021 study published in the journal  Science Advance s  found that the people of Japan bore genetic signatures from three ancient populations rather than just two as previously thought. [ 5 ]


However recently, the tripartite ancestry theory is being met with criticism since its introduction in 2021. In essence, Japanese researchers claim that a tripartite theory is redundant as the genetical difference between Yayoi and Kofun groups is not significant enough and that the temporal discrepancy of the periods is minuscule.


Stephen Pheasant (1986), who taught  anatomy ,  biomechanics  and  ergonomics  at the  Royal Free Hospital  and the  University College, London , said that  Far Eastern  people have proportionately shorter lower limbs than  European  and  black African people . Pheasant said that the proportionately short lower limbs of Far Eastern people is a difference that is most characterized in  Japanese people , less characterized in  Korean  and  Chinese people , and least characterized in  Vietnamese  and  Thai people . [ 67 ] [ 68 ]


Rajvir Yadav et al. (2000) stated the sitting height to stature ratios of different populations: South Indian (0.4922), female Indian (0.4974), Eastern Indian (0.4991), Southeastern African (0.5096), Central Indian (0.5173), US (0.5202), Western Indian (0.5243), German (0.5266) and Japanese (0.5452). [ 69 ]


Hirofumi Matsumura et al. (2001) and Hideo Matsumoto et al. (2009) said that the  Japanese  and  Vietnamese people  are regarded to be a mix of Northeast Asians and Southeast Asians. However, the amount of northern genetics is higher in Japanese people compared to Vietnamese, who are closer to other Southeast Asians ( Thai  or  Bamar people ). [ 70 ] [ 71 ]


Neville Moray  (2005) said that, for  Korean  and  Japanese  pilots, sitting height is more than 54% of their stature, with about 46% of their stature from leg length. Moray said that, for Americans and most  Europeans , sitting height is about 52% of their stature, with about 48% of their stature from leg length. Moray indicated that modifications in basic  cockpit  geometry are required to accommodate Japanese and  Vietnamese   pilots . Moray said that the Japanese have longer torsos and a higher shoulder point than the Vietnamese, but the Japanese have about similar arm lengths to the Vietnamese, so the  control stick  would have to be moved 8 cm closer to the pilot for the Japanese and 7 cm closer to the pilot for the Vietnamese. Moray said that, due to having shorter legs than Americans,  rudder pedals  must be moved closer to the pilot by 10 cm for the Japanese and 12 cm for the Vietnamese. [ 72 ]


Ashley Montagu  (1989) said that the " Mongoloid  skull generally, whether  Chinese  or  Japanese , has been rather more  neotenized  than the  Caucasoid  or  European ..." [ 73 ]


Ann Kumar (1998) said that Michael Pietrusewsky (1992) said that, in a craniometric study, the cranial bones of Southeast Asians ( Borneo ,  Vietnam ,  Sulu ,  Java , and  Sulawesi  etc.) are closer to  Japanese , in that order, than  Mongolian  and  Chinese  populations are close to Japanese. In the craniometric study, Michael Pietrusewsky (1992) said that, even though  Japanese people   cluster  with Mongolians, Chinese and Southeast Asians in a larger  Asian  cluster, the cranial bones of Japanese people are more closely aligned with several  mainland  and  island Southeast Asian  samples than with Mongolians and Chinese. However, Pietrusewsky (1992) also said, more research is needed on the similarity of the cranial bones between Japanese and Southeast Asians. [ 74 ] [ 75 ]


In a  craniometric  study, Pietrusewsky (1994) found that the Japanese series, which was a series that spanned from the  Yayoi period  to modern times, formed a single branch with Korea. [ 76 ]  Later, Pietrusewsky (1999) found, however, that  Korean  and  Yayoi people  were very highly separated in the East Asian cluster, indicating that the connection that Japanese have with Korea would not have derived from Yayoi people. [ 76 ]  However, in a follow-up study, Pietrusewsky (2010) corrected that East Asians and Southeast Asians were markedly separated from each other. He found that  Koreans  had the most similar cranial bones to ancient and modern Japanese including the Yayoi people and Jōmon people, followed by  Taiwan  and  Hainan . [ 52 ]  He stated that a common origin of Northeast Asians could be traced and that they began entering the Japanese archipelago at the beginning of the Yayoi period. [ 52 ]


Park Dae-kyoon et al. (2001) said that distance analysis based on thirty-nine non-metric cranial traits showed that Koreans are closer craniometrically to  Kazakhs  and  Mongols  than to the populations in  China  and  Japan . [ 77 ]


Torimitsu et. al (2024) states that there is quantifiable dimorphism in the cranium of Japanese people, similar to Thais, Indonesians, Filipinos and Malays. In addition, the nasal height and breadth of the Japanese were reported to be greater and smaller than Filipinos respectively, although Thais possessed greater nasal height and breadth than the Japanese. Japanese skulls also share some similarities with Hispanics, implied by the frequency of Hispanic skulls from southwestern United States being misclassified as Asian, particularly Japanese. [ 78 ]


Mesopotamia


Egypt


Iran


Anatolia


The  Levant


Arabia


Cosmology


The  genetic history of the Middle East  is the subject of research within the fields of human  population genomics ,  archaeogenetics  and  Middle Eastern studies . Researchers use  Y-DNA ,  mtDNA , and  other autosomal DNA  tests to identify the genetic history of ancient and modern populations of  Egypt ,  Persia ,  Mesopotamia ,  Anatolia ,  Arabia , the  Levant , and other areas.


Developments in  DNA sequencing  in the 1970s and 1980s provided researchers with the tools needed to study  human genetic variation  and the  genetics of human populations  to discover  founder populations  of modern people groups and human migrations. [ 1 ]


In 2005,  National Geographic  launched  The Genographic Project , led by 12 prominent scientists and researchers, to study and map historical human migration patterns by collecting and analyzing  DNA  samples from hundreds of thousands of people from around the world. National Geographic stopped selling Geno kits on May 31, 2019 and is no longer processing results. [ 2 ]


Various DNA studies have found that the genetic variant frequencies of  North African  populations are intermediate between those of the  Near East , the  Horn of Africa ,  Southern Europe  and  Sub Saharan Africa , with the strongest links being to the populations of  West Asia . [ 3 ] [ 4 ]


A study performed on a sample of 147 modern Egyptians found that the male haplogroups are  E1b1b  (36.1%, predominantly  E-M78 ),  J  (32.0%),  G  (8.8%),  T  (8.2%), and  R  (7.5%). [ 5 ]  The study found that "Egypt's  NRY  frequency distributions appear to be much more similar to those of the  Middle East  than to any sub-Saharan African population, suggesting a much larger  Eurasian  genetic component ... The cumulative frequency of typical sub-Saharan lineages (A, B, E1, E2, E3a, and E3b*) is 9% in Egypt ... whereas the haplogroups of Eurasian origin (Groups C, D, and F–Q) account for 59% [in Egypt]". [ 5 ]   Cruciani et al. (2007)  suggests that E-M78, E1b1b predominant subclade in Egypt, originated in "Northeastern Africa", with a corridor for bidirectional migrations between northeastern and eastern Africa (at least 2 episodes between 23.9 and 17.3 ky and 18.0–5.9 ky ago), trans-Mediterranean migrations directly from northern Africa to Europe (mainly in the last 13.0 ky), and flow from northeastern Africa to western Asia between 20.0 and 6.8 ky ago. Also, the authors identified the frequency of the E-M78 subclade among modern-day populations in the Northeastern African region, which in the study referred to sample groups in Libya and Egypt.  Cruciani et al. (2007)  also proposed that E-M35, the parent clade of E-M78, originated in  East Africa  during the Palaeolithic and subsequently spread to the region of Egypt. [ 6 ]


A 2004 mtDNA study of 58 upper Egyptian individuals included 34 individuals from  Gurna , a small settlement on the hills opposite Luxor. The 34 individuals from Gurna exhibited the haplogroups:  M1  (6/34 individuals, 17.6%), H (5/34 individuals, 14.7%), L1a (4/34 individuals, 11.8%) and U (3/34 individuals, 8.8%). The M1 haplotype frequency in Gurna individuals (6/34 individuals, 17.6%) is similar to that seen in  Ethiopian  population (20%), along with a West Eurasian component different in haplogroup distribution in the Gurna individuals. However, the M1 haplotypes from Gurna individuals exhibited a mutation that is not present in Ethiopian population; whereas this mutation was present in non-M1 haplotype individuals from Gurna. Nile Valley Egyptians do not show the characteristics that were shown by the Gurna individuals. The results of the study suggested that the sample of Gurna individuals had retained elements of an ancestral genetic structure from an ancestral  East African  population, characterized by a high M1 haplogroup frequency. [ 7 ]  Another 2004 mtDNA study featured the Gurna individuals samples, and clustered them together with the  Ethiopian  and  Yemeni  groups, in between the Near Eastern and other African sample groups. [ 8 ]


A 2005 genetic study found close affinities of eastern sub-Saharan populations with Egypt in the phylogenetic trees through analysis of the short DNA sequences. The authors suggested that the influential role of the Nile River served as a migratory route and an agent of genetic flow which contributed to present-day  heterogeneity  in Egypt. [ 9 ]


A study which analyzed 275 samples from five populations in  Algeria ,  Tunisia , and  Egypt , as well as published data from  Moroccan  populations, suggests that the North African pattern of Y-chromosomal variation, including in Egypt, is largely of Neolithic origin. The study analyzed North African populations, including North Egyptians and South Egyptians, as well as samples from Southern Europe, the Middle East, and sub-Saharan Africa, and revealed the following conclusions about the male-lineage variation in North Africa: "The lineages that are most prevalent in North Africa are distinct from those in the regions to the immediate north and south: Europe and sub-Saharan Africa ... two haplogroups predominate within North Africa, together making up almost two-thirds of the male lineages: E3b2 and J* (42% and 20%, respectively). E3b2 is rare outside North Africa, and is otherwise known only from Mali, Niger, and Sudan to the immediate south, and the Near East and Southern Europe at very low frequencies. Haplogroup J reaches its highest frequencies in the Middle East". [ 10 ]


Shomarka Keita examined a published Y-chromosome dataset on Afro-Asiatic populations and found that a key lineage  E-M35 / E-M78 , sub-clade of haplogroup E, was shared between the populations in the locale of original Egyptian speakers and modern Cushitic speakers from the Horn. These lineages are present in Egyptians, Berbers, Cushitic speakers from the Horn of Africa, and Semitic speakers in the Near-East. He noted that variants are also found in the Aegean and Balkans, but the origin of the M35 subclade was in  East Africa , and its clades were dominant in a core portion of Afro-Asiatic speaking populations which included  Cushitic ,  Egyptian  and  Berber  groups, in contrast Semitic speakers showed a decline in frequency going west to east in the Levantine-Syria region. Keita identified high frequencies of M35 (>50%) among  Omotic  populations, but stated that this derived from a small, published sample of 12. Keita also wrote that the PN2 mutation was shared by M35 and M2 lineages and this defined clade originated from East Africa. He concluded that "the genetic data give population profiles that clearly indicate males of African origin, as opposed to being of Asian or European descent" but acknowledged that the biodiversity does not indicate any specific set of skin colors or facial features as populations were subject to microevolutionary pressures. [ 11 ]


A study analyzed various populations and found that Copts and Egyptians showed low levels of genetic differentiation and lower levels of genetic diversity compared to the northeast African groups. Copts and Egyptians displayed similar levels of European/Middle Eastern ancestry (Copts were estimated to be of 69.54% ± 2.57 European ancestry, and the Egyptians of 70.65% ± 2.47 European ancestry). The study concluded that the Copts and the Egyptians have a common history linked to smaller population sizes, and that the behavior in the admixture analyses is consistent with shared ancestry between Copts and Egyptians and/or additional  genetic drift  in the Copts. [ 12 ]


A genetic study published in the " European Journal of Human Genetics"  (2019) found that Northern Africans (including Egyptians) from a global population sample of 164 were closely related to Europeans and  West Asians  as well as to  Southwest Asians . However, the authors acknowledged that the results of the study, which featured the 55 AINSP panel, would have further weight if further extensive population studies from Morocco, Tunisia and Egypt were obtained as only nine population samples were included to represent the North African region. [ 13 ]


Contamination from handling and intrusion from microbes create obstacles to the recovery of  Ancient DNA . [ 14 ]  Consequently, most DNA studies have been carried out on modern  Egyptian  populations with the intent of learning about the influences of historical migrations on the population of Egypt. [ 15 ] [ 16 ] [ 17 ] [ 18 ]   According to historian William Stiebling and archaeologist Susan N. Helft, conflicting DNA analysis on recent genetic samples such as the Amarna royal mummies has led to a lack of consensus on the genetic makeup of the ancient Egyptians and their geographic origins. [ 19 ]


In 1993, a study was performed on ancient  mummies  of the  12th Dynasty , which identified multiple lines of descent, some of which originated from  Sub-Saharan Africa  but other lineages were not identified. [ 20 ] [ 21 ]


Hawass et al. (2010)  undertook detailed anthropological, radiological, and genetic studies as part of the King Tutankhamun Family Project. The objectives included attempting to determine familial relationships among 11 royal mummies of the New Kingdom, as well to research for pathological features including potential inherited disorders and infectious diseases. [ 22 ]   Hawass et al. (2012)  undertook an anthropological, forensic, radiological, and genetic study of the 20th dynasty mummies of Ramesses III and an unknown man which were found together. [ 23 ]


In 2012 the 20th dynasty mummies of  Ramesses III  and another mummy "Unknown Man E" believed to be Ramesses III's son  Pentawer  were analyzed by Albert Zink, Yehia Z Gad and a team of researchers under  Zahi Hawass , then Secretary General of the  Supreme Council of Antiquities , Egypt. Genetic kinship analyses revealed identical haplotypes in both mummies using the Whit Athey's haplogroup predictor, the Y chromosomal haplogroup E1b1a ( E-M2 ) was predicted. [ 23 ]


In 2013,  Nature  announced the publication of the first genetic study utilizing  next-generation sequencing  to ascertain the ancestral lineage of an Ancient Egyptian individual. The research was led by Carsten Pusch of the  University of Tübingen  in  Germany  and Rabab Khairat, who released their findings in the  Journal of Applied Genetics . DNA was extracted from the heads of five Egyptian mummies that were housed at the institution. All the specimens were dated between 806 BC and 124 AD, a timeframe corresponding with the late Dynastic period. The researchers observed that one of the mummified individuals likely belonged to the mtDNA  haplogroup I2 , a maternal clade that is believed to have originated in  Western Asia . [ 24 ]


In a 2017 study published in  Nature , three ancient Egyptian mummies were obtained spanning around 1,300 years of  Egyptian  history from the late  New Kingdom  to the  Roman period . The study used 135 modern Egyptian samples. Two of the three ancient Egyptians were assigned to haplogroup  J  and one to haplogroup  E1b1b1  both are carried by modern Egyptians. Analyses of the ancient Egyptian samples revealed higher affinities with near eastern populations compared to modern Egyptians, likely due to an 8% increase in African component which occurred predominantly within the last 2000 years. [ 25 ]  "Genetic continuity between ancient and modern Egyptians cannot be ruled out despite this more recent sub-Saharan African influx, while continuity with  modern Ethiopians  is not supported." [ 25 ]  The authors noted that the ancient Egyptian samples were obtained from one site and may not be representative for all of ancient Egypt. They stated that more genetic studies on mummified remains from southern Egypt and Sudan would be needed to reach a conclusive view. [ 25 ]   Gourdine et al. (2018)  criticised the methodology of the study and argued that the Sub-Saharan "genetic affinities" may be attributed to "early settlers" and "the relevant Sub-Saharan genetic markers" do not correspond with the geography of known trade routes". [ 26 ]  However a follow-up study in 2022 sampled six different excavation sites along the entire length of the Nile Valley, spanning 4000 years of Egyptian history, and the 18 high quality mitochondrial genomes that were reconstructed which the authors argued supported the results from the earlier study at Abusir el-Meleq. [ 27 ]  In 2023,  Christopher Ehret  criticised the conclusions of the 2017 study which proposed the ancient Egyptians had a Levantine background based on insufficient sampling and a "biased" interpretation of the genetic data. [ 28 ]  Ehret also cited previous genetic analysis which had identified the  Horn of Africa  as the origin of the  E-M35  paternal haplogroup found among Egyptians. [ 29 ]


The tomb of two high-status Egyptians,  Nakht-Ankh and Khnum-Nakht  was discovered by Sir  Flinders Petrie  and Ernest Mackay in 1907. Nakht-Ankh and Khnum-Nakht lived during the  12th Dynasty  (1985–1773 BCE) in Middle Egypt and were aged 20 years apart. Their tomb was completely undisturbed prior to its excavation. Each mummy has a different physical morphology and in the DNA analysis by the University of Manchester differences between the Y chromosome SNPs indicate different paternal lineages concluding that Nakht-Ankh and Khnum-Nakht were half-brothers but Y chromosome sequences were not complete enough to determine paternal haplogroup. The SNP identities were consistent with mtDNA haplogroup M1a1 with 88.05–91.27% degree of confidence, thus confirming the  African  origins of the two individuals. [ 30 ]


In 2020 Yehia Z Gad and other researchers of the Hawass team published results of an analysis of the mitochondrial and Y-chromosomal haplogroups of several mummies of 18th Dynasty Including  Tutankhamun  in the journal Human Molecular Genetics, Volume 30, Issue R1, 1 March 2021, Pages R24–R28, [ 31 ]  Results were used to provide information about the phylogenetic groups of his family members and their presence among the reported contemporary Egyptian population data. The analysis confirmed previous data of the Tutankhamun's ancestry with multiple controls authenticating all results. However, the specific clade of R1b was not determined and the profiles for Tutankhamun and Amenhotep III were incomplete, the analysis produced differing probability figures despite having concordant allele results. Because the relationships of these two mummies with the KV55 mummy had previously been confirmed in an earlier study, the haplogroup prediction of both mummies could be derived from the full profile of the KV55 data. The proposed sibling relationship between Tutankhamun's parents,  Akhenaten  and the mummy known as the "younger lady" (KV35YL) is further supported.


In 2022, S.O.Y. Keita analysed 8  Short Tandem loci  (STR) data published as part of these studies by  Hawass et al. (2010) , using an algorithm that only has three choices: Eurasians, sub-Saharan Africans, and East Asians, but not North Africa or the Near East, with "Eurasians" being strictly European populations. [ 32 ]  Nonetheless, using these three options, Keita concluded that the studies showed "a majority to have an affinity with " sub-Saharan " Africans in one affinity analysis". However, Keita cautioned that this does not mean that the royal mummies "lacked other affiliations" which he argued had been obscured in typological thinking. Keita further added that different "data and algorithms might give different results" which reflects the complexity of biological heritage and the associated interpretation. [ 33 ]


Blood typing and DNA sampling on ancient Egyptian  mummies  is scant; however, a 1982 study of blood typing of dynastic mummies found ABO frequencies to be most similar to modern Egyptians. [ 34 ]  ABO blood group distribution shows that modern Egyptians form a sister group to North African populations, including  Berbers ,  Nubians  and  Canary Islanders . [ 35 ]


A 2017 study analyzed the autosomal DNA and genome of an Iron Age Iranian sample taken from  Teppe Hasanlu  (F38_Hasanlu, dated to 971–832 BCE) and revealed it had close affinities to a Chalcolithic North-West Anatolian individual from Kumtepe even closer than Neolithic Iranians. This implies admixture took place between ancient populations of Iran and Anatolia. [ 36 ]


A genetic study was made on the North Iranian populations on the  Gilaks  and  Mazandaranis , spanning the southwestern coast of the  Caspian Sea , up to the border with neighbouring  Azerbaijan . The Gilaks and Mazandaranis comprise 7% of the Iranian population. The study suggested that their ancestors came from the  Caucasus  region, perhaps displacing an earlier group in the South Caspian. Linguistic evidence supports this scenario, in that the Gilaki and Mazandarani languages (but not other Iranian languages) share certain typological features with  Caucasian languages , and specifically  South Caucasian languages . There have been patterns analyzed of mtDNA and Y chromosome variation in the Gilaki and Mazandarani. [ 37 ]


Based on mtDNA HV1 sequences, the Gilaks and Mazandarani most closely resemble their geographic and linguistic neighbors, namely other Iranian groups. However, their Y chromosome types most closely resemble those found in groups from the  South Caucasus . [ 37 ]
A scenario that explains these differences is a south Caucasian origin for the ancestors of the Gilani and Mazandarani, followed by introgression of women (but not men) from local Iranian groups, possibly because of patrilocality. [ 37 ]
Given that both mtDNA and language are maternally transmitted, the incorporation of local Iranian women would have resulted in the concomitant replacement of the ancestral Caucasian language and mtDNA types of the Gilani and Mazandarani with their current Iranian language and mtDNA types. Concomitant replacement of language and mtDNA may be a more general phenomenon than previously recognized. [ citation needed ]


The Mazandarani and Gilani groups fall inside a major cluster consisting of populations from the  Caucasus  and  West Asia  and are particularly close to the South Caucasus groups— Georgians ,  Armenians , and  Azerbaijanis . Iranians from Tehran and Isfahan are situated more distantly from these groups. [ 37 ]


The 2013 comparative study on the complete  mitochondrial DNA  diversity in Iranians has indicated that  Iranian Azerbaijanis  are more related to the people of  Georgia , than they are to other Iranians (Like  Persians ), while the Persians, Armenians and  Qashqai  on the other hand were more related to each other. [ 38 ]  It furthermore showed that overall, the complete mtDNA sequence analysis revealed an extremely high level of genetic diversity in the Iranian populations studied which is comparable to the other groups from the  South Caucasus ,  Anatolia  and  Europe . [ 38 ]  The same 2013 research further noted that "the results of AMOVA and MDS analyses did not associate any regional and/or linguistic group of populations in the Anatolia, Caucasus and Iran region pointing to strong genetic affinity of Indo-European speaking Persians and Turkic-speaking Qashqais, thus suggesting their origin from a common maternal ancestral gene pool. [ 38 ]  The pronounced influence of the  South Caucasus  populations on the maternal diversity of  Iranian Azeris  is also evident from the MDS analysis results." [ 38 ]  The study also notes that "It is worth pointing out the position of Azeris from the Caucasus region, who despite their supposed common origin with Iranian Azeris, cluster quite separately and occupy an intermediate position between the Azeris/Georgians and Turks/Iranians grouping". [ 38 ]  The MtDNA results from the samples overall on average closely resemble those found in the neighbouring regions of the  Caucasus ,  Anatolia , and to a lesser extent (Northern)  Mesopotamia . [ 38 ]


Among the most common MtDNA lineages in the nation, namely U3b3, appears to be restricted to populations of Iran and the  Caucasus , while the sub-cluster U3b1a is common in the whole  Near East  region. [ 38 ]


A 2013 study based on DNA extracted from the dental remains of four individuals from different time eras (200–300 CE, 2650–2450 BCE, 2200–1900 BCE) unearthed at Tell Ashara (ancient  Terqa , in modern  Syria ) and Tell Masaikh (ancient Kar-Assurnasirpal) suggested a "possible" genetic link between some people of Bronze Age Mesopotamia and Northern India. These links were found in only a handful of people, with the vast majority Mesopotamian remains having local DNA from  West Asia , and are likely due to trade links between West and South Asia. [ 39 ]  A 2014 study expanding on the 2013 study and based on analysis of 15751 DNA samples arrives at the conclusion, that "M65a, M49 and/or M61 haplogroups carrying ancient Mesopotamians might have been the  merchants  from India". [ 40 ]


In the 1995 book  The History and Geography of Human Genes  the authors wrote that: "The  Assyrians  are a fairly homogeneous group of people, believed to originate from the land of old Assyria in northern Iraq and southeast Anatolia, and Ancient Mesopotamia in general[..] they are Christians and are bona fide descendants of their ancient namesakes." [ 41 ]  In a 2006 study of the Y chromosome DNA of six regional populations, including, for comparison,  Assyrians  and  Syrians  from the Levant, researchers found that, "the two  Semitic  populations (Assyrians and Syrians) are very distinct from each other according to both [comparative] axes. This difference supported also by other methods of comparison points out the weak genetic affinity between the two populations with different historical destinies." [ 42 ]


A 2008 study on the genetics of "old ethnic groups in Mesopotamia", including 340 subjects from seven ethnic communities ("These populations included  Assyrians ,  Iraqi Mizrahi Jews , Persian  Zoroastrians , Armenians, Arabs and Turkmen (representing ethnic groups from Iran, restricted by rules of their religion), and the  Iraqi  and Kuwaiti populations from Iraq and Kuwait.") found that Assyrians were homogeneous with respect to all other ethnic groups sampled in the study, regardless of religious affiliation. [ 43 ]


A study published in 2011 looking at the relationship between Iraq's  Marsh Arabs  and ancient  Sumerians  concluded "the modern Marsh Arabs of Iraq harbour mtDNAs and Y chromosomes that (like those of the Assyrians and Mandeans) are predominantly of Mesopotamian origin. Therefore, certain cultural features of the area such as water buffalo breeding and rice farming, which were most likely introduced from the Indian sub-continent, only marginally affected the gene pool of the autochthonous people of the region. Moreover, a Middle Eastern ancestral origin of the modern population of the marshes of southern Iraq implies that,  if  the Marsh Arabs are descendants of the ancient Sumerians, also Sumerians were not of Indian or Southern Asian ancestry." [ 44 ]  The same 2011 study, when focusing on the genetics of the  Maʻdān  people of Iraq, identified Y chromosome  haplotypes  shared by  Marsh Arabs , many  Arabic  speaking  Iraqis , non Arab  Assyrians ,  Iraqi Jews  and  Mandeans  "supporting a common local background." [ 44 ]


The 2013 Genetic study found that  Kuwaiti  natives can roughly be divided into three groups: the first one is largely of  West Asian  ancestry, representing  Persians  with  European  admixture; the second group is predominantly of city-dwelling  Saudi Arabian  tribe ancestry, and the third group includes most of the tent-dwelling  Bedouin  surnames and is characterized by the presence of 17%  Sub-Saharan African  ancestry. Population differentiation FST estimates place the first group near Asian populations, the second one near  Negev  Bedouin tribes, and the third one near the  Mozabite  population. [ 45 ]


A 2024 genome-wide study on 39 individuals who lived between ~650–1750 CE in  Soqotra , an island situated at the mouth of the  Gulf of Aden  in the northwest  Indian Ocean  between  Africa  and  Arabia , indicates a strong genetic connections between these ancient samples and the similarly isolated  Hadramawt  region of coastal South Arabia that likely reflects a source for the peopling of Soqotra. Genome-level analysis shows that In contrast to the medieval Soqotri, all other genotyped mainland Arabians appear to have a much higher proportion of  sub-Saharan African -related ancestry dating after the  Holocene . The deep ancestry of people from medieval Soqotra and the Hadramawt is also unique in deriving less from early Holocene  Levantine farmers  and more from groups like Late  Pleistocene  hunter-gatherers from the Levant ( Natufians ) than other mainland Arabians. This attests to migrations by early farmers having less impact in southernmost Arabia and Soqotra and provides compelling evidence that there has not been complete population replacement between the Pleistocene and Holocene throughout the Arabian Peninsula. [ 46 ]


Ancient DNA analysis has confirmed the genetic relationship between  Natufians  and other ancient and modern Middle Easterners and the broader West Eurasian meta-population (i.e.  Europeans  and South-Central Asians). The Natufian population displays also ancestral ties to Paleolithic  Taforalt  samples, the makers of the Epipaleolithic  Iberomaurusian  culture of the Maghreb, [ 47 ]  the  Pre-Pottery Neolithic  culture of the Levant, [ 47 ]  the Early Neolithic  Ifri N'Amr Ou Moussa  culture of the Maghreb, [ 48 ]  the Late Neolithic  Kelif el Boroud  culture of the Maghreb, [ 48 ] [ 49 ]  with samples associated with these early cultures all sharing a common genomic component dubbed the "Natufian component", which diverged from other West Eurasian lineages ~26,000 years ago, and is most closely linked to the Arabian lineage. [ 47 ] [ 48 ] [ 50 ]


Individuals associated with the Natufian culture have been found to cluster with other West Eurasian populations, but also have substantial higher ancestry that can be traced back to the hypothetical " Basal Eurasian " lineage, which contributed in varying degrees to all West Eurasian lineages, except the  Ancient North Eurasians , and peaks among modern  Gulf Arabs . [ 50 ] [ 51 ]  The Natufians were already differentiated from other West Eurasian lineages, such as the Anatolian farmers north of the Levant, that contributed to the peopling of Europe in significant amounts, and who had some  Western Hunter Gatherer -like (WHG) inferred ancestry, in contrast to Natufians who lacked this component (similar to Neolithic Iranian farmers from the Zagros mountains). [ 50 ]  This might suggest that different strains of West Eurasians contributed to Natufians and Zagros farmers, [ 36 ] [ 52 ] [ 53 ]  as both Natufians and Zagros farmers descended from different populations of local  hunter gatherers . Contact between Natufians, other  Neolithic  Levantines, Caucasus Hunter Gatherers (CHG), Anatolian and Iranian farmers is believed to have decreased  genetic variability  among later populations in the Middle East. Migrations from the Near-East also occurred towards Africa, and the West Eurasian geneflow into the  Horn of Africa  is best represented by the Levant Neolithic, and may be associated with the spread of  Afroasiatic languages . The scientists suggest that the Levantine early farmers may have spread southward into East Africa, bringing along the associated ancestral components. [ 54 ] [ 55 ]


According to ancient DNA analyses conducted in 2016 on Natufian skeletal remains in the  Raqefet Cave  from present-day northern Israel, the remains of 5 Natufians carried the following paternal haplgroups: [ 55 ] [ 56 ]


Y-DNA


Daniel  Shriner (2018)  reported the following maternal haplogroups recovered from three of the same six males at the Raqefet Cave: J2a2, J2a2, N1b. Using modern populations as a reference, Shriner showed that Natufians carried 61.2% Arabian, 21.2% Northern African, 10.9% Western Asian, and a small amount of Eastern African ancestry at 6.8% which is associated with the modern Omotic-speaking groups of southern Ethiopia. The study also suggested that this component may be the source of  Haplogroup E-M96  (particularly  Y-haplogroup E-M215 , also known as "E1b1b") among Natufians. [ 49 ]


Loosdrecht et al. (2018)  argues that the Natufians had contributed genetically to the  Iberomaurusian  peoples of Paleolithic and Mesolithic northwest Africa, with the Iberomaurusians' other ancestral component being a unique one of sub-Saharan Africa origin (having both West African-like and Hadza-like affinities). [ 47 ]  The Sub-Saharan African DNA in Taforalt individuals has the closest affinity, most of all, to that of modern West Africans (e.g.,  Yoruba , or  Mende ). [ 47 ]  In addition to having similarity with the remnant of a more  basal  Sub-Saharan African lineage (e.g., a  basal West African  lineage shared between Yoruba and Mende peoples), the Sub-Saharan African DNA in the Taforalt individuals of the Iberomaurusian culture may be best represented by modern West Africans. [ 58 ]