page_title: Sardinian people
section_title: Genetics
hierarchical_section_title: Sardinian people / Genetics
caption_attribution_description: English: Principal Component Analysis of Italians, European and Mediterranean populations. (A) Plot of the first two principal components of the Italian population combined with populations from continental Europe and Mediterranean area; (B) geographical localization of the analyzed samples. Legend of symbols and colors used is reported below. The map of European/Mediterranean area was obtained plotting a suitable portion of the spatial world data downloaded from http://thematicmapping.org/ .
context_page_description: The Sardinians, or Sards, are a Romance ethnic group native to Sardinia, from which the western Mediterranean island and autonomous region of Italy derives its name.
context_section_description: Sardinians, while being part of the European gene pool, are well-known outliers in the European genetic landscape (together with the Basques, the Sami and the Icelanders). Two studies analyzing the DNA of ancient individuals from the island confirm that the current population is partly derived from the Early Neolithic Farmers, who remained isolated from major Bronze Age migration occurring on the mainland Indo-European migrations, plus some contribution of the historical colonizers, with most Neolithic ancestry being found in the region of Ogliastra. Several studies have been carried out on the genetics of the Sardinian population to investigate some pathologies to which the Sardinians seem to be predisposed in a unique way, likely linked due to founder effects and genetic drift of this island population, like diabetes mellitus type 1, beta thalassemia and favism, multiple sclerosis and coeliac disease. Some other genetic peculiarities have been noted, like the high frequency of rare uniparental haplotypes, extensive linkage disequilibrium of autosomal markers, high levels of homozygosity, the lowest frequency of RH-negative genes in the Mediterranean, the highest frequency in the world of the MNS*M gene, the highest frequency of HLAB*18 together with some typical African alleles, and the highest frequency of the thalassemia variant β³⁹.
  Recent comparisons between the Sardinians' genome and that of some individuals from the Neolithic and the early Chalcolithic, who lived in the Alpine (Oetzi), German, and Hungarian regions, showed considerable similarities between the two populations, while at the same time consistent differences between the prehistoric samples and the present inhabitants of the same geographical areas were noted. From this it can be deduced that, while central and northern Europe have undergone significant demographic changes due to post-Neolithic migrations, presumably from the eastern periphery of Europe (Pontic-Caspian steppe), Southern Europe and Sardinia in particular were affected less; Sardinians appear to be the population that has best preserved the Neolithic legacy of Western Europe.
  A 2016 study, published on the journal Genetics, traced the origin of the Sardinians in conjunction with a genetically isolated landrace dog breed from the island, the Sardinian Shepherd Dog or Fonni's dog, pinpointing a Middle Eastern and Central European lineage. A 2018 study by Llorente et al. found that the present-day Sardinians are the closest population to the genome of the West Eurasian backflow to the Horn of Africa in ancient times. A 2019 study estimated that the current Sardinian genome derives at roughly 62.5% from Neolithic Anatolia, at 9.7% from the Western Hunter-Gatherers (WHGs), at 13.9% from the Neolithic Ganj Dareh (Iran) and, lastly, at 10.6% from the Yamnaya Samara populations.
  However, Sardinians as a whole are not a homogeneous population genetically: some studies have found some differences among the various villages of the island, as well as within three broad areas of the island. In this regard, the mountainous area of Ogliastra (part of the wider region of Barbagia) is more distant from the rest of Europe and the Mediterranean than other Sardinian sub-regions located in the plains and in the coastal areas, in part because these more accessible areas show, like the rest of much of Europe, a moderate genetic influx from the Yamna culture pastoralists, thought to be the carriers of Indo-European languages into Europe, while Ogliastra has retained unaltered Mesolithic/Neolithic roots.
  According to a study released in 2014, the genetic diversity among some Sardinian individuals from different regions of the island is between 7 and 30 times higher than the one found among other European ethnicities living thousands kilometers away from each other, like Spaniards and Romanians. A similar phenomenon is commonly found in other isolated populations, like the Ladin groups from the Italian region of Veneto and in the Alpine area, where the local orography did not facilitate intraregional communicat
caption: Plot of the principal components of the European and Mediterranean populations across Continental Europe, North Africa and the Middle East.
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