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Nat Genet DOI:10.1038/ng.2368

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

Publication TypeJournal Article
Year of Publication2012
AuthorsTurchin, MC, Chiang, CWK, Palmer, CD, Sankararaman, S, Reich, D, Hirschhorn, JN
Corporate AuthorsGenetic Investigation of Anthropometric Traits (GIANT) Consortium
JournalNat Genet
Date Published2012 Sep
KeywordsAdult, Body Height, Cohort Studies, Europe, European Continental Ancestry Group, Female, Gene Frequency, Genetic Variation, Genetics, Population, Genome-Wide Association Study, Humans, Likelihood Functions, Male, Multifactorial Inheritance, Polymorphism, Single Nucleotide, Selection, Genetic

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


Alternate JournalNat. Genet.
PubMed ID22902787
PubMed Central IDPMC3480734
Grant ListN02-HL-6-4278 / HL / NHLBI NIH HHS / United States
N01-HC-25195 / HC / NHLBI NIH HHS / United States
R01 GM100233 / GM / NIGMS NIH HHS / United States
R01 DK075787 / DK / NIDDK NIH HHS / United States
1R01DK075787 / DK / NIDDK NIH HHS / United States
N01HC25195 / HL / NHLBI NIH HHS / United States