Genetic history of Italy
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The genetic history of Italy includes information around the formation, ethnogenesis, and other DNA-specific information about the inhabitants of Italy. Modern Italians mainly descend from the ancient peoples of Italy, including Indo-European speakers (Romans and other Latins, Falisci, Picentes, Umbrians, Oscans, Sicels, Elymians, and Adriatic Veneti, as well as Magno-Greeks, Cisalpine Gauls and Iapygians) and pre-Indo-European speakers (Etruscans, Ligures, Rhaetians, Euganei, Sicani, Nuragic peoples). Based on DNA analysis, there is evidence of regional genetic substructure and continuity within modern Italy dating back to antiquity.[2][3][4][5]
 | This section may be too technical for most readers to understand. (January 2025) |
In their admixture ratios, Italians are similar to other Southern Europeans of the Mediterranean region, 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.[3][6][7][8][9] According to multiple genome-wide studies, Southern Italians are closest to modern Greeks,[10][11][12][13][14][15][16][17][18][9] while Northern Italians are closest to the Spaniards, the Portuguese and to a lesser extent people from Southern France.[10][17][19][20][21][16][22][23][24][25][18][26] There is also Bronze/Iron Age Anatolian admixture in Italy, with a much lower incidence in Northern Italy compared with Central Italy and Southern Italy.[23][7] Marginal levels (0.1-4%) of North African admixture is also found in Southern Italy with the highest incidence being in the islands of Sicily and Sardinia.[23][7][3]
Overview
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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).[27] 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.[28][13] Overall, the genetic differentiation between the Latins, Etruscans and the preceding proto-Villanovan population of Italy was found to be insignificant.[29] 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.[30][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.[5]
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][6][7][8] 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.[23][20][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.[24] 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.[20][3] 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.[4]
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]
Prehistoric and historical populations of Italy
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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 Bell 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, Picentes and Umbrians. The Northwest and Alpine territories were populated primarily by the Lepontic-speaking peoples of the Golasecca culture and pre-Indo European speakers such as the Ligurians, Camunni, Raetians, Etruscans, who inhabited also Central-western Italy. In the Northeast, the ancient Veneti were settled, while Iapygian tribes, possibly of Illyrian origin, populated Apulia in Southeastern Italy.
From the 8th century BC, Greek colonists settled on the southern Italian coast and Sicily and founded cities, forming what would be later called Magna Graecia. Around the same time, Phoenician colonists settled on the western side of Sicily and Sardinia. 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.
Daunians
A genetic study published in 2022 examined DNA extracted from three necropoleis: Ordona, Salapia and San Giovanni Rotondo, in the region of Apulia in southern Italy, which during the Iron Age have been linked to the Daunian region. Most samples from Ordona and Salapia date to the Daunian period and some samples from San Giovanni Rotondo date more broadly to the Iron Age. Paternal haplogroups of seven Iron Age samples were identified. Two paternal lineages of the Iron Age samples belong to J-M241, one of them could be further processed as J-L283+. Two Iron Age samples belonged to R-M269, one further designated as Z2103+ and one to I-M223.[41]
Iron Age Daunians showed the highest autosomal affinity with Early Iron Age Illyrian populations from Croatia and populations which were formed in Italy in the Roman Republican era, which both can be broadly included in a pan-Mediterranean genetic continuum (stretching from Crete to Republican Rome and the Iberian Peninsula). Links to Minoans/Crete and Iron Age Greeks/Arkadia are less likely. A parsimonious explanation of the Daunian's origin favors a genetic continuity between the Daunians and the population that inhabited the area prior to the historical period that was analyzed, although additional influences from Croatia (ancient Illyria) cannot be excluded, as described by the material remains and the available historical sources.[42]Etruscans
Genetic research has increasingly clarified the origins of the Etruscans. Early studies based on modern samples and mitochondrial DNA (mtDNA) alone yielded inconclusive or contradictory results.[43][44][45] With the advent of ancient DNA analysis and whole genome sequencing (WGS), particularly since 2019, a clearer picture has emerged.[46][47]
Genome-wide studies of Iron Age individuals from Tuscany and Lazio show that Etruscans were genetically similar to their Latin neighbors, despite linguistic differences.[46] Both groups carried Steppe-related ancestry, introduced via migrations in the 2nd millennium BCE, likely associated with the Bell Beaker culture.[47] A 2021 study found no signal of recent admixture from Anatolia or the Eastern Mediterranean, supporting the Etruscans' autochthonous origin.[47] The large majority of Etruscan males belonged to the haplogroup R1b-M269 (75%), particularly R1b-P312 and R1b-L2 (descendant of R1b-U152), while mtDNA was dominated by haplogroup H.[47]
A 2024 study on individuals from Tarquinia (9th–7th century BC) confirmed earlier results: ancestry was 84–92% Italy Bell Beaker with additional 8–26% Steppe admixture. Two males carried haplogroup J2b, and maternal haplogroups matched post-Neolithic European patterns. Physical traits included pale to intermediate skin tones, light/dark brown hair, blue and brown eyes.[48]
Earlier mtDNA-only studies had suggested continuity between Etruscans, medieval, and modern Tuscans—especially in Casentino and Volterra—while rejecting a recent Near Eastern origin.[49][50][51] A 2007 study proposing such an origin based on modern Murlo samples has since been criticized.[52]
Overall, ancient DNA supports the view that the Etruscans were a native population of central Italy, preserving local ancestry despite language retention from pre-Indo-European times.[53][54]
Latins
A genetic study published in Science in November 2019 examined the remains of six Latin males buried near Rome between 900 BC and 200 BC. They carried the paternal haplogroups R-M269, T-L208, R-P311, R-PF7589 and R-P312 (two samples), and the maternal haplogroups H1aj1a, T2c1f, H2a, U4a1a, H11a and H10.[55] These examined individuals were distinguished from preceding populations of Italy by the presence of 30% steppe ancestry.[56] Two out of six individuals from Latin burials were found have a mixture of local Iron Age ancestry and ancestry from an Eastern Mediterranean population. Among modern populations, four out of six were closest to Northern and Central Italians, and then Spaniards, while the other two were closest to Southern Italians.[27] Overall, the genetic differentiation between the Latins, Etruscans and the preceding proto-Villanovan population of Italy was found to be insignificant.[29]
Nuragic civilization
A genetic study published in Nature Communications in February 2020 examined the remains of 17 individuals identified with Nuragic civilization. The samples of Y-DNA extracted belonged to haplogroup I2a1b1 (2 samples), R1b1b2a, G2a2b2b1a1, R1b1b (4 samples), J2b2a1 (3 samples) and G2a2b2b1a1a, while the samples of mtDNA extracted belonged to various types of haplogroup T, V, H, J, K and U.[57] The study found strong evidence of genetic continuity between Nuragic civilization and earlier Neolithic inhabitants of Sardinia, who were genetically similar to Neolithic peoples of Iberia and southern France.[58] They were determined to be of about 80% Early European Farmer (EEF) ancestry and 20% Western Hunter-Gatherer (WHG) ancestry.[59] They were predicted to be largely descended from peoples of the Neolithic Cardial Ware culture, which spread throughout the western Mediterranean in Southern Europe c. 5500 BC.[60] The Nuragic people were differentiated from many other Bronze Age peoples of Europe by the near absence of steppe-related ancestry.[58][61]
A 2021 study by Villalba-Mouco et al. has identified a possible gene flow originating from the Italian peninsula starting from the Chalcolithic. In prehistoric Sardinia, the component associated with Iranian farmers, or Caucasus-related ancestry, present in Mainland Italy since the Neolithic (together with the EEF and WHG components), gradually increases from 0% in the Early Chalcolithic to about 5.8% in the Bronze Age.[62] The absence of the component linked to the Magdalenians would instead exclude contributions from the Chalcolithic of the south of the Iberian peninsula.[62] According to a 2022 study by Manjusha Chintalapati et al., "In Sardinia, a majority of the Bronze Age samples do not have Steppe pastoralist-related ancestry. In a few individuals, we found evidence for steppe ancestry", which would arrive in ~2600 BC.[63]
Genetic data appears to support the hypothesis of a patrilocal society. In various sites, more genetic diversity was found in the mitochondrial DNA, suggesting that women may have moved from community to community more than the men.[64]Picentes
A 2017 analysis of maternal haplogroups from ancient and modern samples indicated a substantial genetic similarity among the modern inhabitants of Central Italy and the area's ancient pre-Roman inhabitants of settlement of Novilara in the province of Pesaro, and evidence of substantial genetic continuity in the region from pre-Roman times to the present with regard to mitochondrial DNA.[65]
In a 2024 study of Iron Age ancient samples, the two main Y haplogroups in Picene were R1-M269/L23 (58% of the total) and J2-M172/M12 (25% of the total), which respectively indicate the direct relationship with Central Europe and the Balkan peninsula. Particularly, the R1-M269/L23 haplogroup was related to the Yamnaya ancestry and was present at high frequency in Central European populations since the Bronze Age onwards.[66]Lombards
A genetic study published in Nature Communications in September 2018 found strong genetic similarities between Lombards of Italy and earlier Lombards of Central Europe. Lombard males were primarily carriers of subclades of haplogroup R1b and I2a2a1, both of which are common among Germanic peoples. Lombard males were found to be more genetically homogeneous than Lombard females. The evidence suggested that the Lombards originated in Central/Northern Europe, and were a patriarchal people who settled Central Europe and then later Italy through a migration from the north.[67]
A genetic study published in Science Advances in September 2018 examined the remains of a Lombard male buried at an Alemannic graveyard. He was found to be a carrier of the paternal haplogroup R1b1a2a1a1c2b2b and the maternal haplogroup H65a. The graveyard also included the remains of a Frankish and a Byzantine male, both of whom were also carriers of subclades of the paternal haplogroup R1b1a2a1a1. The Lombard, Frankish and Byzantine males were all found to be closely related, and displayed close genetic links to Northern Europe, particularly Lithuania and Iceland.[68]
A genetic study published in the European Journal of Human Genetics in January 2019 examined the mtDNA of a large number of early-medieval Lombard remains from Central Europe and Italy. These individuals were found to be closely related and displayed strong genetic links to Central Europe. The evidence suggested that the Lombard settlement of Italy was the result of a migration from the north involving both males and females.[69]
A 2024 paper found that the Lombards of Italy were best modelled by a Jutlandic Iron Age source, consistent with an origin in Jutland or northern Germany.[70]Y-DNA genetic diversity
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Regional distribution of haplogroups
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.[71][72] This percentage lowers in the south of Italy in Calabria (33.2%).[71] On the other hand 39% of the Sardinians belong to Mesolithic European haplogroup I2a1a.[73][74]
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.[75]
In two villages in Lazio and Abruzzo (Cappadocia and Vallepietra), I1 is the most common Y-DNA, recorded at levels 35% and 28%. This is likely attributed to a founder effect.[76]
The Y haplogroup Q, common in Western Asia and Central Asia, was also found among mountain communities in eastern Lazio and western Abruzzo, suggesting that in the past these areas could have hosted a settlement from Anatolia.[76] 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,[28] and 3.7% in Belvedere Marittimo.[77]
North-South Genetic Division and Historical Migrations
A study from the Università Cattolica del Sacro Cuore, based on modern samples, 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.[78] 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.[78][79]
A 2018 genetic study, focusing on the Y-chromosome and haplogroups lineages, their diversity and their distribution by taking some 817 representative subjects of modern Italians, 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".[71] 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 20-40%)[80][81][82][83][84] may reflect continuity from the Villanovan culture and be linked to the emergence of the Etruscan civilization.[85][86] The widespread occurrence 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,[71] as already supported by archaeology, anthropology and linguistics.[87][88][89][90] Subsequent archaeogenetic studies have confirmed that the Etruscans were predominantly R1b-M269 (75%), particularly with clades of R1b-U152 in high percentages, and G2a-L497 to a much lesser extent, while no J2a-M67* has been found among the Etruscans, concluding that the Etruscans were autochthonous.[47] 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.[30] Therefore, Y-DNA J2a-M67, downstream to Y-DNA J-L26 and J-M304, is most likely in Italy since the Neolithic and, in any case, can't be the proof of recent contacts with Anatolia.
Y-DNA introduced by historical immigration
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%.[91][13][92] Overall, the estimated Southern Balkan and Western European paternal contributions in Sicily are about 63% and 26% respectively.[92]
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.[28]
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.[76]
Genetic composition of Italian mtDNA
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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.[93][94] 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.[93][95]
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.[96]
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.[97]
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.[92]
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.[98][99][100][101][102][21][103] 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.[104][105]
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.[106][107]
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.[108]
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.[50]
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.[5]
Autosomal
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South/West European North/East European Caucasus
West Asian South Asian East Asian North African/Sub-Saharan African[109]
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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.[110]
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.[111]
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.[112]
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"[113]
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).[20]
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.[16]
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.[114]
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.[92]
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%).[19]
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.[24]
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."[13] 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."[13]
Raveane et al. (2019) in a genome-wide study on modern-day Italians for the first time used samples of modern-day Italians from all 20 Italian regions, a sharp north-south division in cluster distribution was detected and the Italian clusters were separated into three main groups: Sardinia, Northern Italy (North/Central-Northern Italy, including Tuscany) and Southern Italy (South/Central-Southern Italy, including Umbria, Marche, Lazio, and plus Sicily); the first two were close to populations originating in Western Europe, while the last was closer to Middle Eastern groups. The study discovered 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.[3]
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).[30]
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.[116]
A 2023 study examined the Balkan samples from the Roman era, finding surprisingly little ancestry contribution from peoples of Italic descent.[135]
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.[136]
Baker et al. (2024) used implement typology to divide the Gravettian technocomplex into nine distinct groups, including two closely related groups in Italy, comparing these with the archaeogenetic evidence,[145] most notably from Allentoft et al. (2022).[173]
A 2024 study analysed the genomic ancestry and social dynamics of Western Hunter-Gatherers, including several from Italy.[185]
Another 2024 study sequenced human-animal co-burials from the Late Iron Age necropolis of the Seminario Vescovile in Verona.[195]
See also
References
Sources
Further reading
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