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Sardinians genetic background explained by runs of homozygosity and genomic regions under positive selection

Di Gaetano, Cornelia and Fiorito, Giovanni and Ortu, Maria Francesca and Rosa, Fabio and Guarrera, Simonetta and Pardini, Barbara and Cusi, Daniele and Frau, Francesca and Barlassina, Cristina and Troffa, Chiara and Argiolas, Giuseppe and Zaninello, Roberta and Fresu, Giovanni and Glorioso, Nicola and Piazza, Alberto and Matullo, Giuseppe (2014) Sardinians genetic background explained by runs of homozygosity and genomic regions under positive selection. PLoS One, Vol. 9 (3), e91237. eISSN 1932-6203. Article.

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DOI: 10.1371/journal.pone.0091237


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 (FRoH%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.

Item Type:Article
ID Code:9696
Uncontrolled Keywords:Homozygosity, RoHs>0.5 Mb (FRoH%0.5), TMEM252, genetic population structure, Sardinia
Subjects:Area 06 - Scienze mediche > MED/09 Medicina interna
Divisions:001 Università di Sassari > 01-a Nuovi Dipartimenti dal 2012 > Scienze Chirurgiche, Microchirurgiche e Mediche
002 Altri enti e centri di ricerca del Nord Sardegna > AOU -Azienda Ospedaliero Universitaria, Sassari
Publisher:Public Library of Science
Copyright Holders:© 2014 Di Gaetano et al.
Deposited On:26 Mar 2014 08:38

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