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Turchin, M.C.* ; Chiang, C.W.* ; Palmer, C.D.* ; Sankararaman, S.* ; Reich, D.* ; GIANT Consortium (Heid, I.M. ; Thiering, E. ; Gieger, C. ; Grallert, H. ; Heinrich, J. ; Illig, T. ; Peters, A. ; Wichmann, H.-E.) ; Hirschhorn, J.N.*

Evidence of widespread selection on standing variation in Europe at height-associated SNPs.

Nat. Genet. 44, 1015-1019 (2012)
DOI PMC
Open Access Green möglich sobald Postprint bei der ZB eingereicht worden ist.
Strong signatures of positive selection at newly arising genetic variants are well documented in humans(1-8), but this form of selection may not be widespread in recent human evolution(9). Because many human traits are highly polygenic and partly determined by common, ancient genetic variation, an alternative model for rapid genetic adaptation has been proposed: weak selection acting on many pre-existing (standing) genetic variants, or polygenic adaptation(10-12). By studying height, a classic polygenic trait, we demonstrate the first human signature of widespread selection on standing variation. We show that frequencies of alleles associated with increased height, both at known loci and genome wide, are systematically elevated in Northern Europeans compared with Southern Europeans (P < 4.3 × 10(-4)). This pattern mirrors intra-European height differences and is not confounded by ancestry or other ascertainment biases. The systematic frequency differences are consistent with the presence of widespread weak selection (selection coefficients ∼10(-3)-10(-5) per allele) rather than genetic drift alone (P < 10(-15)).
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Publikationstyp Artikel: Journalartikel
Dokumenttyp Wissenschaftlicher Artikel
Korrespondenzautor
ISSN (print) / ISBN 1061-4036
e-ISSN 1546-1718
Zeitschrift Nature Genetics
Quellenangaben Band: 44, Heft: 9, Seiten: 1015-1019 Artikelnummer: , Supplement: ,
Verlag Nature Publishing Group
Verlagsort New York, NY
Nichtpatentliteratur Publikationen
Begutachtungsstatus Peer reviewed
Institut(e) Institute of Genetic Epidemiology (IGE)
Institute of Epidemiology (EPI)
CCG Biomarker for the subclassification of T2DM (KKG-KDB)
Institute of Epidemiology II (EPI2)
Research Unit Molecular Epidemiology (AME)