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Cited by 566Genetic Associations and EpidemiologyForensic and Genetic ResearchGenetic Mapping and Diversity in Plants and Animals

Genome-wide association studies in diverse populations

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Rosenberg, Noah A., Huang, Lucy, Jewett, Ethan M., Szpiech, Zachary A., Jankovic, Ivana, Boehnke, Michael·2010·Nature Reviews Genetics
DOI 10.1038/nrg2760PMC PMC3079573
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Abstract

Genome-wide association (GWA) studies have identified a large number of SNPs associated with disease phenotypes. As most GWA studies have been performed in populations of European descent, this Review examines the issues involved in extending the consideration of GWA studies to diverse worldwide populations. Although challenges exist with issues such as imputation, admixture and replication, investigation of a greater diversity of populations could make substantial contributions to the goal of mapping the genetic determinants of complex diseases for the human population as a whole.

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  • Poor generalizability of genetic studies across populations arises from the overwhelming abundance of European descent studies and dearth of well-powered studies in globally diverse populations.

    “Poor generalizability of genetic studies across populations arises from the overwhelming abundance of European descent studies and dearth of well-powered studies in globally diverse populations25–28.”

    From Clinical use of current polygenic risk scores may exacerbate health disparities (2019) · cites this paper as [28]

    The Abstract (page unavailable) says GWA studies were overwhelmingly centered on European-descent populations and that transferability of their findings to other populations had not been extensively investigated. “The case for more populations” explains why findings may differ across populations and calls for large-scale studies. The paper does not establish that generalizability is poor or that the study imbalance itself causes poor generalizability; it presents transferability as an open question. (LLM, conf=0.85)

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Cited by

Sorted by citations

Authors
Rosenberg, N. A., Huang, L., Jewett, E. M., Szpiech, Z. A., Jankovic, I., & Boehnke, M.
Affiliations
University of Michigan (US)
Corresponding author
Rosenberg, Noah A.
ORCID
Venue
Nature Reviews Genetics
Publisher
Springer Science and Business Media LLC
Published
2010-05
Volume
11
Issue
5
Pages
356-366
ISSN
  • 1471-0056 (ISSN-L)
  • 1471-0064
DOI
10.1038/nrg2760
PMC
PMC3079573
OpenAlex
W2087546077
Cited by
566
References
16
Citations by year
2026: 12 · 2025: 18 · 2024: 18 · 2023: 28 · 2022: 30 · 2021: 29 · 2020: 30 · 2019: 37 · 2018: 29 · 2017: 51 · 2016: 39 · 2015: 36 · 2014: 40 · 2013: 52 · 2012: 55
FWCI
5.72
Type
journal article
Language
en
Open access
Licence
www.springer.com/tdm (tdm)
Locations
  • Nature Reviews Genetics (publishedVersion)
  • PubMed (publishedVersion)
  • PubMed Central (acceptedVersion)
Funders
  • Burroughs Wellcome Fund
  • Alfred P. Sloan Foundation
  • National Institutes of Health
  • National Heart, Lung, and Blood Institute (HL090564, R01HL090564)
  • National Human Genome Research Institute (R56HG000376, R01HG000376, HG000376, T32HG000040)
  • National Institute of General Medical Sciences (R01GM081441, GM-081441)
  • National Institute of Diabetes and Digestive and Kidney Diseases (U01DK062370, R56DK062370, DK-062370, R01DK062370)
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 › Genetic Mapping and Diversity in Plants and Animals
Keywords
genome-wide association study, population diversity, non-European populations, single nucleotide polymorphisms, genotype imputation, admixture, replication, genetic ancestry
MeSH terms
Genetics, Population, Humans, Genome, Human, Genome-Wide Association Study

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