Evidence of widespread selection on standing variation in Europe at height-associated SNPs
Open accessAbstract
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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Both height and skin pigmentation exhibit substantial variation within and across human populations, and are thought to be under positive selection in various populations.
“Both height and skin pigmentation exhibit substantial variation within and across human populations, and are thought to be under positive selection in various populations [19–22].”
From Investigating the case of human nose shape and climate adaptation (2017) · cites this paper as [19]
Height seems to be under positive selection within European and African populations separately.
“While height seems to be under positive selection within European and African populations separately [19,34], it does not appear to be driven by divergent selection pressures across the populations considered here.”
From Investigating the case of human nose shape and climate adaptation (2017) · cites this paper as [19]
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- Authors
- Turchin, M. C., Chiang, C. W., Palmer, C. D., Sankararaman, S., Reich, D., Genetic Investigation of ANthropometric Traits (GIANT) Consortium, & Hirschhorn, J. N.
- Affiliations
- Boston Children's Hospital (US)
- Broad Institute (US)
- Corresponding author
- Hirschhorn, Joel N
- ORCID
- Venue
- Nature Genetics
- Published
- 2012-08-19
- Volume
- 44
- Issue
- 9
- Pages
- 1015-1019
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- PMC
- PMC3480734
- OpenAlex
- W2106100115
- Cited by
- 329
- References
- 33
- Citations by year
- 2026: 10 · 2025: 11 · 2024: 7 · 2023: 15 · 2022: 14 · 2021: 32 · 2020: 26 · 2019: 33 · 2018: 33 · 2017: 39 · 2016: 33 · 2015: 32 · 2014: 25 · 2013: 17 · 2012: 2
- FWCI
- 14.41
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Nature Genetics (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Digital Access to Scholarship at Harvard (DASH) (Harvard University) (submittedVersion, cc-by)
- eScholarship (California Digital Library) (submittedVersion)
- Site cant be reached (submittedVersion)
- Funders
- National Institutes of Health (n01hc25195-41-0-1)
- National Heart, Lung, and Blood Institute (N01‐HC25195, N02- HL-64278, N01-HC-025195)
- National Institute of General Medical Sciences (R01GM100233)
- National Institute of Diabetes and Digestive and Kidney Diseases (R01DK075787)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Forensic and Genetic Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Evolution and Genetic Dynamics
- Keywords
- polygenic adaptation, standing genetic variation, height, positive selection, allele frequency differences, selection coefficients, genetic drift, human evolution
- MeSH terms
- Adult, Body Height, Europe, Female, Gene Frequency, Genetics, Population, Humans, Male, Selection, Genetic, Genetic Variation, Cohort Studies, Likelihood Functions, Multifactorial Inheritance, Polymorphism, Single Nucleotide, White People, Genome-Wide Association Study
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