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Discerning the ancestry of European Americans in genetic association studies

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 source 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.
Publication status:
Published
Peer review status:
Peer reviewed

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Publisher copy:
10.1371/journal.pgen.0030236

Authors

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Institution:
"Harvard Medical School, Boston, Massachusetts, USA", "Broad Institute of Harvard and MIT, Cambridge, Massachusetts, USA"
Department:
Program in Medical and Population Genetics
Role:
Author
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Institution:
"Broad Institute of Harvard and MIT, Cambridge, Massachusetts, USA", "Children's Hospital, Boston, Massachusetts, USA"
Department:
Program in Genomics and Divisions of Genetics and Endocrinology
Role:
Author
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Institution:
Broad Institute of Harvard and MIT, Cambridge, Massachusetts, USA
Department:
Program in Medical and Population Genetics
Role:
Author
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Institution:
University of Oxford
Division:
MPLS
Department:
Zoology
Role:
Author
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Institution:
Universita Cattolica del Sacro Cuore, Rome, Italy
Department:
Forensic Genetics Laboratory,Istituto di Medician Legale
Role:
Author


Publisher:
Public Library of Science
Journal:
PLoS Genetics More from this journal
Volume:
4
Issue:
1
Article number:
e236
Publication date:
2008-01-18
Acceptance date:
2007-11-16
DOI:
EISSN:
1553-7404
ISSN:
1553-7390


Language:
English
Keywords:
UUID:
uuid:40cc23aa-e321-4f5d-9b62-9dffe0dd7023
Local pid:
ora:5171
Deposit date:
2011-03-24
ARK identifier:

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