Charleston W K Chiang 1 , 2 , 3 , Joseph H Marcus 4 , Carlo Sidore 5 , 6 , Arjun Biddanda 4 , Hussein Al-Asadi 7 , Magdalena Zoledziewska 5 , Maristella Pitzalis 5 , Fabio Busonero 5 , 6 , Andrea Maschio 5 , Giorgio Pistis 5 , 6 , Maristella Steri 5 , Andrea Angius 5 , Kirk E Lohmueller 3 , Goncalo R Abecasis 6 , David Schlessinger 8 , Francesco Cucca 5 , 9 , John Novembre 4
17 September 2018
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 (aDNA) 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. We find 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 aDNA samples varies subtly across the island. Together, our results indicate within-island sub-structure and sex-biased processes have substantially impacted the genetic history of Sardinia. These results give new insight to the demography of ancestral Sardinians and help further the understanding of sharing of disease risk alleles between Sardinia and mainland populations.