Population Stratification in Genetic Association Studies.

Hellwege JN, Keaton JM, Giri A, Gao X, Velez Edwards DR, Edwards TL
Curr Protoc Hum Genet. 2017 95: 1.22.1-1.22.23

PMID: 29044472 · PMCID: PMC6007879 · DOI:10.1002/cphg.48

Population stratification (PS) is a primary consideration in studies of genetic determinants of human traits. Failure to control for PS may lead to confounding, causing a study to fail for lack of significant results, or resources to be wasted following false-positive signals. Here, historical and current approaches for addressing PS when performing genetic association studies in human populations are reviewed. Methods for detecting the presence of PS, including global and local ancestry methods, are described. Also described are approaches for accounting for PS when calculating association statistics, such that measures of association are not confounded. Many traits are being examined for the first time in minority populations, which may inherently feature PS. © 2017 by John Wiley & Sons, Inc.

Copyright © 2017 John Wiley and Sons, Inc.

MeSH Terms (11)

Alleles Chromosome Mapping Evolution, Molecular Gene Frequency Genetic Association Studies Genetics, Population Humans Linkage Disequilibrium Models, Genetic Models, Statistical Quantitative Trait, Heritable

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