The DOI matches its Crossref record; 26 of the 27 references it cites were found in a registry or an index.
Use of Unlinked Genetic Markers to Detect Population Stratification in Association Studies
Open accessAbstract
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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“Methods were developed to detect and adjust for such biases (67–69) as well as unexpected relatedness between subjects.”
From Genetic Mapping in Human Disease (2008) · cites this paper as [68]
In the citing paper
“Under the null (one-cluster) model of no population structure, for which the L and H groups are assumed to be well matched, we observed a large excess of small P values in x 2 tests for association with skin color (table 2), and a global test for population stratification based on the sum of x 2 statistics 46 was highly statistically significant”
From A Genomewide Association Study of Skin Pigmentation in a South Asian Population (2007) · cites this paper as [46]
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Self-citation
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Cited by
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Metadata
- Authors
- Pritchard, J. K., & Rosenberg, N. A.
- Affiliations
- University of Oxford (GB)
- Stanford University (US)
- Corresponding author
- Pritchard, Jonathan K.
- 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)
- 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
- 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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