Cited by 1,198Genetic Associations and EpidemiologyForensic and Genetic ResearchGenetic diversity and population structure

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Use of Unlinked Genetic Markers to Detect Population Stratification in Association Studies

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Pritchard, Jonathan K., Rosenberg, Noah A.·1999·The American Journal of Human Genetics

DOI 10.1086/302449PMC PMC1378093

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Abstract

We examine the issue of population stratification in association-mapping studies. In case-control studies of association, population subdivision or recent admixture of populations can lead to spurious associations between a phenotype and unlinked candidate loci. Using a model of sampling from a structured population, we show that if population stratification exists, it can be detected by use of unlinked marker loci. We show that the case-control-study design, using unrelated control individuals, is a valid approach for association mapping, provided that marker loci unlinked to the candidate locus are included in the study, to test for stratification. We suggest guidelines as to the number of unlinked marker loci to use.

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Authors: Pritchard, J. K., & Rosenberg, N. A.
Affiliations: University of Oxford (GB)
Stanford University (US)
Corresponding author: Pritchard, Jonathan K.
ORCID: Pritchard, Jonathan K.
Rosenberg, Noah A.
Venue: The American Journal of Human Genetics
Publisher: Elsevier BV
Published: 1999-07
Volume: 65
Issue: 1
Pages: 220-228
ISSN: 0002-9297 (ISSN-L)
DOI: 10.1086/302449
PMC: PMC1378093
OpenAlex: W2116329478
Cited by: 1,198
References: 27
Citations by year: 2026: 9 · 2025: 3 · 2024: 9 · 2023: 6 · 2022: 3 · 2021: 9 · 2020: 13 · 2019: 49 · 2018: 21 · 2017: 12 · 2016: 22 · 2015: 27 · 2014: 28 · 2013: 42 · 2012: 46
FWCI: 27.14
Type: journal article
Language: en
Open access: bronze
doi.org
Licence: www.elsevier.com/tdm/userlicense/1.0/ (tdm)
www.elsevier.com/open-access/userlicense/1.0/ (vor, 5132 d)
Locations: The American Journal of Human Genetics (publishedVersion)
PubMed Central (publishedVersion)
PubMed (publishedVersion)
Funders: National Institutes of Health
National Defense Science and Engineering Graduate
National Institute of General Medical Sciences (GM19634, GM 28428, F32GM019634, P01GM028428)
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 diversity and population structure
Keywords: population stratification, association mapping, case-control study, spurious association, admixture, population structure
MeSH terms: Alleles, Genetic Markers, Genotype, Humans, Genetic Linkage, Models, Genetic, Research Design, Case-Control Studies

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Use of Unlinked Genetic Markers to Detect Population Stratification in Association Studies

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