An Overview of the Genetic Structure within the Italian Population from Genome-Wide Data

Cornelia Di Gaetano, Floriana Voglino, Simonetta Guarrera, Giovanni Fiorito, Fabio Rosa, Anna Maria Di Blasio, Paola Manzini, Irma Dianzani, Marta Betti, Daniele Cusi, Francesca Frau, Cristina Barlassina, Dario Mirabelli, Corrado Magnani, Nicola Glorioso, Stefano Bonassi, Alberto Piazza and Giuseppe Matullo

PLOS ONE, 2012, vol. 7, issue 9, 1-10

Abstract: In spite of the common belief of Europe as reasonably homogeneous at genetic level, advances in high-throughput genotyping technology have resolved several gradients which define different geographical areas with good precision. When Northern and Southern European groups were considered separately, there were clear genetic distinctions. Intra-country genetic differences were also evident, especially in Finland and, to a lesser extent, within other European populations. Here, we present the first analysis using the 125,799 genome-wide Single Nucleotide Polymorphisms (SNPs) data of 1,014 Italians with wide geographical coverage. We showed by using Principal Component analysis and model-based individual ancestry analysis, that the current population of Sardinia can be clearly differentiated genetically from mainland Italy and Sicily, and that a certain degree of genetic differentiation is detectable within the current Italian peninsula population. Pair-wise FST statistics Northern and Southern Italy amounts approximately to 0.001 between, and around 0.002 between Northern Italy and Utah residents with Northern and Western European ancestry (CEU). The Italian population also revealed a fine genetic substructure underscoring by the genomic inflation (Sardinia vs. Northern Italy = 3.040 and Northern Italy vs. CEU = 1.427), warning against confounding effects of hidden relatedness and population substructure in association studies.

Date: 2012
References: View references in EconPapers View complete reference list from CitEc
Citations:

Downloads: (external link)
https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0043759 (text/html)
https://journals.plos.org/plosone/article/file?id= ... 43759&type=printable (application/pdf)

Related works:
This item may be available elsewhere in EconPapers: Search for items with the same title.

Export reference: BibTeX RIS (EndNote, ProCite, RefMan) HTML/Text

Persistent link: https://EconPapers.repec.org/RePEc:plo:pone00:0043759

DOI: 10.1371/journal.pone.0043759

Access Statistics for this article

More articles in PLOS ONE from Public Library of Science
Bibliographic data for series maintained by plosone ().