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Discerning the Ancestry of European Americans in Genetic Association Studies

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Price, Alkes L, Butler, Johannah, Patterson, Nick, Capelli, Cristian, Pascali, Vincenzo L, Scarnicci, Francesca, Ruiz-Linares, Andres, Groop, Leif, Saetta, Angelica A, Korkolopoulou, Penelope, Seligsohn, Uri, Waliszewska, Alicja, Schirmer, Christine, Ardlie, Kristin, Ramos, Alexis, Nemesh, James, Arbeitman, Lori, Goldstein, David B, Reich, David, Hirschhorn, Joel N·2008·PLoS Genetics

DOI 10.1371/journal.pgen.0030236PMC PMC2211542

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Abstract

European Americans are often treated as a homogeneous group, but in fact form a structured population due to historical immigration of diverse source populations. Discerning the ancestry of European Americans genotyped in association studies is important in order to prevent false-positive or false-negative associations due to population stratification and to identify genetic variants whose contribution to disease risk differs across European ancestries. Here, we investigate empirical patterns of population structure in European Americans, analyzing 4,198 samples from four genome-wide association studies to show that components roughly corresponding to northwest European, southeast European, and Ashkenazi Jewish ancestry are the main sources of European American population structure. Building on this insight, we constructed a panel of 300 validated markers that are highly informative for distinguishing these ancestries. We demonstrate that this panel of markers can be used to correct for stratification in association studies that do not generate dense genotype data.

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Devlin, B., & Roeder, K. (1999) · Biometrics · doi:10.1111/j.0006-341x.1999.00997.x · Cited by 3,162 · cited 1×
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Pritchard, J. K., Stephens, M., Rosenberg, N., & Donnelly, P. (2000) · American Journal of Human Genetics · doi:10.1086/302959 · Cited by 2,066
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Altshuler, D., Hirschhorn, J. N., Klannemark, M., Lindgren, C. M., Vohl, M.-C., Nemesh, J., Lane, C. R., Schaffner, S. F., Bolk, S., Brewer, C., et al. (2000) · Nature Genetics · doi:10.1038/79216 · Cited by 1,766
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Authors: Price, A. L., Butler, J., Patterson, N., Capelli, C., Pascali, V. L., Scarnicci, F., Ruiz-Linares, A., Groop, L., Saetta, A. A., Korkolopoulou, P., Seligsohn, U., Waliszewska, A., Schirmer, C., Ardlie, K., Ramos, A., Nemesh, J., Arbeitman, L., Goldstein, D. B., Reich, D., & Hirschhorn, J. N.
Affiliations: Broad Institute (US)
University of Oxford (GB)
Università Cattolica del Sacro Cuore (IT)
Lund University (SE)
National and Kapodistrian University of Athens (GR)
Sheba Medical Center (IL)
Duke University (US)
Corresponding author: Price, Alkes L
Reich, David
Hirschhorn, Joel N
ORCID: Price, Alkes L
Patterson, Nick
Capelli, Cristian
Pascali, Vincenzo L
Groop, Leif
Saetta, Angelica A
Korkolopoulou, Penelope
Ardlie, Kristin
Goldstein, David B
Reich, David
Hirschhorn, Joel N
Venue: PLoS Genetics
Publisher: Public Library of Science (PLoS)
Published: 2008-01-18
Volume: 4
Issue: 1
Pages: e236
ISSN: 1553-7390 (ISSN-L)
1553-7404
DOI: 10.1371/journal.pgen.0030236
PMC: PMC2211542
OpenAlex: W2117980841
Cited by: 327
References: 35
Citations by year: 2026: 3 · 2025: 4 · 2024: 9 · 2023: 6 · 2022: 7 · 2021: 5 · 2020: 13 · 2019: 7 · 2018: 10 · 2017: 12 · 2016: 15 · 2015: 17 · 2014: 13 · 2013: 20 · 2012: 33
FWCI: 29.06
Type: journal article
Language: en
Open access: gold
doi.org
Licence: cc-by
creativecommons.org/licenses/by/4.0/ (unspecified)
Locations: PLoS Genetics (publishedVersion, cc-by)
Europe PMC (PubMed Central) (publishedVersion, cc-by)
PubMed Central (publishedVersion, cc-by)
PubMed (publishedVersion)
Oxford University Research Archive (ORA) (University of Oxford) (acceptedVersion, cc-by)
DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
UCL Discovery (University College London) (submittedVersion)
Figshare (submittedVersion, cc-by)
Lund University Publications (Lund University) (submittedVersion)
Funders: American Diabetes Association
March of Dimes Foundation
Richard and Susan Smith Family Foundation
Massachusetts General Hospital
University of Pennsylvania
Emory University
Northwestern University
University of Pittsburgh
Louisiana State University
Broad Institute
National Institutes of Health (6u54rr020278-06)
School of Medicine, Emory University
National Institute of Mental Health (MH59566, MH-60870, MH-059565, MH067257, MH-061675, MH-59586, R01MH059566, R01MH059571, MH-059571, R01MH060879, R01MH059565, R01MH060870, R01MH063420, U01 MH-060879, R01MH061675, R01MH059586, R01MH059588, MH63420, R01MH067257, MH-59587, MH-059588, R01MH059587)
National Human Genome Research Institute (U01HG004168)
National Institute of Neurological Disorders and Stroke
National Center for Research Resources (U54-RR020278)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Forensic and Genetic Research
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
Social Sciences › Anthropology › Race, Genetics, and Society
Keywords: European Americans, population structure, ancestry inference, population stratification, genetic association studies, Ashkenazi Jewish ancestry, ancestry informative markers, false positive association
MeSH terms: Bipolar Disorder, DNA, Genetic Markers, Genetics, Population, Geography, Humans, Jews, Multiple Sclerosis, Parkinson Disease, United States, Genetic Variation, Reproducibility of Results, Inflammatory Bowel Diseases, Genome, Human, Case-Control Studies, Oligonucleotide Array Sequence Analysis, White People

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Discerning the Ancestry of European Americans in Genetic Association Studies

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