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    Correction of population stratification in large multi-ethnic association studies.

    Serre, David; Montpetit, Alexandre; Paré, Guillaume; Engert, James C; Yusuf, Salim; Keavney, Bernard; Hudson, Thomas J; Anand, Sonia

    PloS one. 2008;3(1):e1382.

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    Abstract

    BACKGROUND: The vast majority of genetic risk factors for complex diseases have, taken individually, a small effect on the end phenotype. Population-based association studies therefore need very large sample sizes to detect significant differences between affected and non-affected individuals. Including thousands of affected individuals in a study requires recruitment in numerous centers, possibly from different geographic regions. Unfortunately such a recruitment strategy is likely to complicate the study design and to generate concerns regarding population stratification. METHODOLOGY/PRINCIPAL FINDINGS: We analyzed 9,751 individuals representing three main ethnic groups - Europeans, Arabs and South Asians - that had been enrolled from 154 centers involving 52 countries for a global case/control study of acute myocardial infarction. All individuals were genotyped at 103 candidate genes using 1,536 SNPs selected with a tagging strategy that captures most of the genetic diversity in different populations. We show that relying solely on self-reported ethnicity is not sufficient to exclude population stratification and we present additional methods to identify and correct for stratification. CONCLUSIONS/SIGNIFICANCE: Our results highlight the importance of carefully addressing population stratification and of carefully "cleaning" the sample prior to analyses to obtain stronger signals of association and to avoid spurious results.

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    Published date:
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    Place of publication:
    United States
    Volume:
    3
    Issue:
    1
    Pagination:
    e1382
    Digital Object Identifier:
    10.1371/journal.pone.0001382
    Pubmed Identifier:
    18196181
    Access state:
    Active

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    Record metadata

    Manchester eScholar ID:
    uk-ac-man-scw:201267
    Created by:
    Price, Caroline
    Created:
    11th July, 2013, 14:56:27
    Last modified by:
    Price, Caroline
    Last modified:
    11th July, 2013, 14:56:27

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