Sardinians Genetic Background Explained by Runs of Homozygosity and Genomic Regions Under Positive Selection

Overview

Journal PLoS One

Specialties General Medicine
Science

Date 2014 Mar 22

PMID 24651212

Citations 25

Authors

Cornelia Di Gaetano

Giovanni Fiorito

Maria Francesca Ortu

Fabio Rosa

Simonetta Guarrera

Barbara Pardini

Daniele Cusi

Francesca Frau

Cristina Barlassina

Chiara Troffa

Giuseppe Argiolas

Roberta Zaninello

Giovanni Fresu

Nicola Glorioso

Alberto Piazza

Giuseppe Matullo

Affiliations

Soon will be listed here.

Abstract

The peculiar position of Sardinia in the Mediterranean sea has rendered its population an interesting biogeographical isolate. The aim of this study was to investigate the genetic population structure, as well as to estimate Runs of Homozygosity and regions under positive selection, using about 1.2 million single nucleotide polymorphisms genotyped in 1077 Sardinian individuals. Using four different methods--fixation index, inflation factor, principal component analysis and ancestry estimation--we were able to highlight, as expected for a genetic isolate, the high internal homogeneity of the island. Sardinians showed a higher percentage of genome covered by RoHs>0.5 Mb (F(RoH%0.5)) when compared to peninsular Italians, with the only exception of the area surrounding Alghero. We furthermore identified 9 genomic regions showing signs of positive selection and, we re-captured many previously inferred signals. Other regions harbor novel candidate genes for positive selection, like TMEM252, or regions containing long non coding RNA. With the present study we confirmed the high genetic homogeneity of Sardinia that may be explained by the shared ancestry combined with the action of evolutionary forces.

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