high differentiation among eight villages in a secluded area of sardinia revealed by genome-wide high density snps analysis高分化8个村庄中隐蔽的面积撒丁岛揭示了全基因组高密度snp分析.pdfVIP

High Differentiation among Eight Villages in a Secluded Area of Sardinia Revealed by Genome-Wide High Density SNPs Analysis 1. 2. 2 1 2 2 Giorgio Pistis , Ignazio Piras , Nicola Pirastu , Ivana Persico , Alessandro Sassu , Andrea Picciau , 2 2 2 2 2 Dionigio Prodi , Cristina Fraumene , Evelina Mocci , Maria Teresa Manias , Rossano Atzeni , Massimiliano Cosso2, Mario Pirastu1,2, Andrea Angius1,2.* 1 Istituto di Genetica delle Popolazioni, CNR, Alghero, Sassari, Italy, 2 Shardna Life Sciences, Pula, Cagliari, Italy Abstract To better design association studies for complex traits in isolated populations it’s important to understand how history and isolation moulded the genetic features of different communities. Population isolates should not ‘‘a priori’’ be considered homogeneous, even if the communities are not distant and part of a small region. We studied a particular area of Sardinia called Ogliastra, characterized by the presence of several distinct villages that display different history, immigration events and population size. Cultural and geographic isolation characterized the history of these communities. We determined LD parameters in 8 villages and defined population structure through high density SNPs (about 360 K) on 360 unrelated people (45 selected samples from each village). These isolates showed differences in LD values and LD map length. Five of these villages show high LD values probably due to their reduced population size and extreme isolation. High genetic differentiation among villages was detected. Moreover population structure analysis revealed