Genomic history of the Sardinian population

• Published in: Nature genetics Vol. 50; no. 10; pp. 1426 - 1434
• Main Authors: Chiang, Charleston W. K., Marcus, Joseph H., Sidore, Carlo, Biddanda, Arjun, Al-Asadi, Hussein, Zoledziewska, Magdalena, Pitzalis, Maristella, Busonero, Fabio, Maschio, Andrea, Pistis, Giorgio, Steri, Maristella, Angius, Andrea, Lohmueller, Kirk E., Abecasis, Goncalo R., Schlessinger, David, Cucca, Francesco, Novembre, John
• Format: Journal Article
• Language: English
• Published: New York Nature Publishing Group US 01.10.2018; Nature Publishing Group
• Subjects: 45; 631/208/457; 631/208/514/1948; Agriculture; Animal Genetics and Genomics; Bias; Biomedical and Life Sciences; Biomedicine; Bronze Age; Cancer Research; Demography; Deoxyribonucleic acid; Disease; DNA; Farmers; Gene Function; Genetic aspects; Genetic research; Genetic testing; Genome-wide association studies; Genomes; Genotypes; Haplotypes; Health risks; Human Genetics; Hunter-gatherers; Identification and classification; Migration; Mitochondrial DNA; Neolithic; Paleolithic; Population; Population genetics; Sardinians; Stone Age; Substructures; United States; United States > US; Europe
• ISSN: 1061-4036; 1546-1718; 1546-1718
• DOI: 10.1038/s41588-018-0215-8

The population of the Mediterranean island of Sardinia has made important contributions to genome-wide association studies of complex disease traits and, based on ancient DNA studies of mainland Europe, Sardinia is hypothesized to be a unique refuge for early Neolithic ancestry. To provide new insights on the genetic history of this flagship population, we analyzed 3,514 whole-genome sequenced individuals from Sardinia. Sardinian samples show elevated levels of shared ancestry with Basque individuals, especially samples from the more historically isolated regions of Sardinia. Our analysis also uniquely illuminates how levels of genetic similarity with mainland ancient DNA samples varies subtly across the island. Together, our results indicate that within-island substructure and sex-biased processes have substantially impacted the genetic history of Sardinia. These results give new insight into the demography of ancestral Sardinians and help further the understanding of sharing of disease risk alleles between Sardinia and mainland populations. Analyses of 3,514 whole-genome-sequenced individuals from Sardinia indicate that within-island substructure and sex-biased processes have impacted the genetic history of Sardinia, providing new insight into the demography of ancestral Sardinians.