Transferability and Fine-Mapping of Genome-Wide Associated Loci for Adult Height across Human Populations
Open accessAbstract
Human height is the prototypical polygenic quantitative trait. Recently, several genetic variants influencing adult height were identified, primarily in individuals of East Asian (Chinese Han or Korean) or European ancestry. Here, we examined 152 genetic variants representing 107 independent loci previously associated with adult height for transferability in a well-powered sample of 1,016 unrelated African Americans. When we tested just the reported variants originally identified as associated with adult height in individuals of East Asian or European ancestry, only 8.3% of these loci transferred (p-values < or =0.05 under an additive genetic model with directionally consistent effects) to our African American sample. However, when we comprehensively evaluated all HapMap variants in linkage disequilibrium (r(2) > or = 0.3) with the reported variants, the transferability rate increased to 54.1%. The transferability rate was 70.8% for associations originally reported as genome-wide significant and 38.0% for associations originally reported as suggestive. An additional 23 loci were significantly associated but failed to transfer because of directionally inconsistent effects. Six loci were associated with adult height in all three groups. Using differences in linkage disequilibrium patterns between HapMap CEU or CHB reference data and our African American sample, we fine-mapped these six loci, improving both the localization and the annotation of these transferable associations.
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Common variants are often consistent across populations, such as between Caucasians and Asians, despite differences in allele frequencies.
“common variants are often consistent across populations — such as between Caucasians and Asians — despite differences in allele frequencies65,66.”
From Rare and common variants: twenty arguments (2012) · cites this paper as [66]
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References 42 · Cited by 56
Research works printed but not linked: 1
- [22]Maher B 2008 The case of the missing heritability. Nature 456 18 21 18987709
- Authors
- Shriner, D., Adeyemo, A., Gerry, N. P., Herbert, A., Chen, G., Doumatey, A., Huang, H., Zhou, J., Christman, M. F., & Rotimi, C. N.
- Affiliations
- National Institutes of Health (US)
- Coriell Institute For Medical Research (US)
- Boston University (US)
- Corresponding author
- Shriner, Daniel
- Rotimi, Charles N.
- ORCID
- Venue
- PLoS ONE
- Publisher
- Public Library of Science (PLoS)
- Published
- 2009-12-22
- Volume
- 4
- Issue
- 12
- Pages
- e8398
- ISSN
- 1932-6203 (ISSN-L)
- PMC
- PMC2792725
- OpenAlex
- W1991262083
- Cited by
- 56
- References
- 42
- Citations by year
- 2025: 2 · 2024: 4 · 2022: 3 · 2021: 4 · 2020: 1 · 2019: 2 · 2018: 2 · 2017: 1 · 2016: 2 · 2015: 5 · 2014: 3 · 2013: 8 · 2012: 8
- FWCI
- 3.68
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Licence
- Locations
- PLoS ONE (publishedVersion, public-domain)
- PubMed Central (publishedVersion, public-domain)
- PubMed (publishedVersion)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
- Figshare (submittedVersion, cc-by)
- OpenBU (Boston University) (submittedVersion, public-domain)
- Funders
- National Institutes of Health (S06GM008016-320107, Z01HG200362), S06GM008016-380111)
- National Institute of General Medical Sciences (S06 GM008016-380111, S06GM008016, S06 GM008016-320107)
- National Center for Research Resources (M01RR010284)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Mapping and Diversity in Plants and Animals
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Physical Performance
- Keywords
- adult height, fine mapping, African Americans, linkage disequilibrium, HapMap, East Asian ancestry, European ancestry
- MeSH terms
- Adult, Body Height, Chromosomes, Human, Pair 1, Chromosomes, Human, Pair 17, District of Columbia, Family, Female, Genetics, Population, Haplotypes, Humans, Male, Middle Aged, Universities, Linkage Disequilibrium, Genome, Human, Physical Chromosome Mapping, Polymorphism, Single Nucleotide, Principal Component Analysis, Genome-Wide Association Study, Genetic Loci
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