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Nelis, M.* ; Esko, T.* ; Mägi, R.* ; Zimprich, F.* ; * ; Toncheva, D.* ; Karachanak, S.* ; Piskackova, T.* ; Balascák, I.* ; Peltonen, L.* ; Jakkula, E.* ; Rehnström, K.* ; Lathrop, M* ; Heath, S.* ; Galan, P.* ; Schreiber, S.* ; Meitinger, T. ; Pfeufer, A. ; Wichmann, H.-E. ; Melegh, B.* ; Polgár, N.* ; Toniolo, D.* ; Gasparini, P.* ; D'Adamo, P.* ; Klovins, J.* ; Nikitina-Zake, L.* ; Kucinskas, V.* ; Kasnauskiene, J.* ; Lubinski, J.* ; Debniak, T.* ; Limborska, S.* ; Khrunin, A.* ; Estivill, X.* ; Rabionet, R.* ; Marsal, S.* ; Julià, A.* ; Antonarakis, S.E.* ; Deutsch, S.* ; Borel, C.* ; Attar, H.* ; Gagnebin, M.* ; Macek, M.* ; Krawczak, M.* ; Remm, M.* ; Metspalu, A.*

Genetic structure of Europeans: A view from the North-East.

PLoS ONE 4:e5472 (2009)
Publ. Version/Full Text Volltext DOI PMC
Open Access Gold
Creative Commons Lizenzvertrag
Using principal component (PC) analysis, we studied the genetic constitution of 3,112 individuals from Europe as portrayed by more than 270,000 single nucleotide polymorphisms (SNPs) genotyped with the Illumina Infinium platform. In cohorts where the sample size was >100, one hundred randomly chosen samples were used for analysis to minimize the sample size effect, resulting in a total of 1,564 samples. This analysis revealed that the genetic structure of the European population correlates closely with geography. The first two PCs highlight the genetic diversity corresponding to the northwest to southeast gradient and position the populations according to their approximate geographic origin. The resulting genetic map forms a triangular structure with a) Finland, b) the Baltic region, Poland and Western Russia, and c) Italy as its vertexes, and with d) Central- and Western Europe in its centre. Inter- and intra- population genetic differences were quantified by the inflation factor lambda (lambda) (ranging from 1.00 to 4.21), fixation index (F(st)) (ranging from 0.000 to 0.023), and by the number of markers exhibiting significant allele frequency differences in pair-wise population comparisons. The estimated lambda was used to assess the real diminishing impact to association statistics when two distinct populations are merged directly in an analysis. When the PC analysis was confined to the 1,019 Estonian individuals (0.1% of the Estonian population), a fine structure emerged that correlated with the geography of individual counties. With at least two cohorts available from several countries, genetic substructures were investigated in Czech, Finnish, German, Estonian and Italian populations. Together with previously published data, our results allow the creation of a comprehensive European genetic map that will greatly facilitate inter-population genetic studies including genome wide association studies (GWAS).
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Publication type Article: Journal article
Document type Scientific Article
Language english
Publication Year 2009
HGF-reported in Year 2009
ISSN (print) / ISBN 1932-6203
Journal PLoS ONE
Quellenangaben Volume: 4, Issue: 5, Pages: , Article Number: e5472 Supplement: ,
Publisher Public Library of Science (PLoS)
Publishing Place Lawrence, Kan.
Reviewing status Peer reviewed
Institute(s) Institute of Human Genetics (IHG)
Institute of Epidemiology (EPI)
POF-Topic(s) 30501 - Systemic Analysis of Genetic and Environmental Factors that Impact Health
30503 - Chronic Diseases of the Lung and Allergies
Research field(s) Genetics and Epidemiology
PSP Element(s) G-500700-001
G-503900-001
PubMed ID 19424496
DOI 10.1371/journal.pone.0005472
WOS ID 000265933800011
Scopus ID 65549126774
Erfassungsdatum 2009-12-03
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