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A genome-wide analysis of population structure in the Finnish Saami with implications for genetic association studies
Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.
Department of Medical Genetics, University of Antwerp, Antwerp, Belgium; StatUA Statistics Center, University of Antwerp, Antwerp, Belgium.
Institute of Clinical Medicine, Department of Otorhinolaryngology, University of Oulu, Oulu, Finland.
Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.
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2011 (English)In: European Journal of Human Genetics, ISSN 1018-4813, E-ISSN 1476-5438, Vol. 19, no 3, p. 347-352Article in journal (Refereed) Published
Abstract [en]

The understanding of patterns of genetic variation within and among human populations is a prerequisite for successful genetic association mapping studies of complex diseases and traits. Some populations are more favorable for association mapping studies than others. The Saami from northern Scandinavia and the Kola Peninsula represent a population isolate that, among European populations, has been less extensively sampled, despite some early interest for association mapping studies. In this paper, we report the results of a first genome-wide SNP-based study of genetic population structure in the Finnish Saami. Using data from the HapMap and the human genome diversity project (HGDP-CEPH) and recently developed statistical methods, we studied individual genetic ancestry. We quantified genetic differentiation between the Saami population and the HGDP-CEPH populations by calculating pair-wise F(ST) statistics and by characterizing identity-by-state sharing for pair-wise population comparisons. This study affirms an east Asian contribution to the predominantly European-derived Saami gene pool. Using model-based individual ancestry analysis, the median estimated percentage of the genome with east Asian ancestry was 6% (first and third quartiles: 5 and 8%, respectively). We found that genetic similarity between population pairs roughly correlated with geographic distance. Among the European HGDP-CEPH populations, F(ST) was smallest for the comparison with the Russians (F(ST)=0.0098), and estimates for the other population comparisons ranged from 0.0129 to 0.0263. Our analysis also revealed fine-scale substructure within the Finnish Saami and warns against the confounding effects of both hidden population structure and undocumented relatedness in genetic association studies of isolated populations.

Place, publisher, year, edition, pages
Nature Publishing Group, 2011. Vol. 19, no 3, p. 347-352
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Medical Genetics
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URN: urn:nbn:se:oru:diva-63459DOI: 10.1038/ejhg.2010.179ISI: 000287445600022PubMedID: 21150888Scopus ID: 2-s2.0-79951810840OAI: oai:DiVA.org:oru-63459DiVA, id: diva2:1167890
Note

Funding agercies:

European Community QLRT-2001-00331 

University of Antwerp  

Research Foundation - Flanders (FWO) G.0163.09 

State of Arizona 

Available from: 2017-12-19 Created: 2017-12-19 Last updated: 2018-05-08Bibliographically approved

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Mäki-Torkko, Elina

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