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Title

Genetic characterization of northeastern Italian population isolates in the context of broader European genetic diversity

Authors
Esko, Tõnu
Mezzavilla, Massimo
Debniak, Tadeusz
Jakkula, Eveliina
Julia, Antonio
Karachanak, Sena
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Published in European Journal of Human Genetics. 2013, vol. 21, no. 6, p. 659-65
Abstract Population genetic studies on European populations have highlighted Italy as one of genetically most diverse regions. This is possibly due to the country's complex demographic history and large variability in terrain throughout the territory. This is the reason why Italy is enriched for population isolates, Sardinia being the best-known example. As the population isolates have a great potential in disease-causing genetic variants identification, we aimed to genetically characterize a region from northeastern Italy, which is known for isolated communities. Total of 1310 samples, collected from six geographically isolated villages, were genotyped at >145000 single-nucleotide polymorphism positions. Newly genotyped data were analyzed jointly with the available genome-wide data sets of individuals of European descent, including several population isolates. Despite the linguistic differences and geographical isolation the village populations still show the greatest genetic similarity to other Italian samples. The genetic isolation and small effective population size of the village populations is manifested by higher levels of genomic homozygosity and elevated linkage disequilibrium. These estimates become even more striking when the detected substructure is taken into account. The observed level of genetic isolation in Friuli-Venezia Giulia region is more extreme according to several measures of isolation compared with Sardinians, French Basques and northern Finns, thus proving the status of an isolate.
Keywords Cluster AnalysisEuropean Continental Ancestry Group/geneticsGenetic VariationGenetics, PopulationGenome, Human/geneticsHomozygoteHumansItalyLinkage Disequilibrium/geneticsModels, GeneticPolymorphism, Single Nucleotide/genetics
Identifiers
PMID: 23249956
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Article (Published version) (1.6 MB) - public document Free access
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Research group Pathologie Moléculaire de la Trisomie 21 et le Génome Humain (248)
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ESKO, Tõnu et al. Genetic characterization of northeastern Italian population isolates in the context of broader European genetic diversity. In: European Journal of Human Genetics, 2013, vol. 21, n° 6, p. 659-65. https://archive-ouverte.unige.ch/unige:34640

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Deposited on : 2014-03-07

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