NHLBI IN THE PRESS

Shedding light on Sardinian genetic history

The population of the Mediterranean island of Sardinia has made important contributions to genome-wide association studies of complex disease traits. One key characteristic of Sardinia is its differentiation from mainland populations, as evidenced by a distinctive cultural, linguistic, and archaeological legacy. Early genetic studies made clear that Sardinia has also been a genetically isolated population. Despite substantial research and interest in Sardinia, genetic studies of its demographic history are still incomplete. To provide novel insight into the peopling of Sardinia and its relationship to mainland populations, researchers recently analyzed whole-genome sequences from 3,514 Sardinians with detailed self-reported ancestry going back two generations. Sardinian samples show elevated levels of shared ancestry with Basque individuals, especially samples from the more historically isolated regions of Sardinia. The analysis also illuminates how levels of genetic similarity with mainland ancient DNA samples vary across the island. 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. The study, which was partly funded by the NHLBI, was published in the journal Nature Genetics.