Unit

UNIT 1.22 Methods for Detecting and Correcting for Population Stratification

  1. Todd L. Edwards1,
  2. Xiaoyi Gao2

Published Online: 1 APR 2012

DOI: 10.1002/0471142905.hg0122s73

Current Protocols in Human Genetics

Current Protocols in Human Genetics

How to Cite

Edwards, T. L. and Gao, X. 2012. Methods for Detecting and Correcting for Population Stratification. Current Protocols in Human Genetics. 73:1.22:1.22.1–1.22.14.

Author Information

  1. 1

    Center for Human Genetics Research, Division of Epidemiology, Department of Medicine, Vanderbilt University, Nashville, Tennessee

  2. 2

    Department of Ophthalmology and Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, California

Publication History

  1. Published Online: 1 APR 2012
  2. Published Print: APR 2012

Abstract

Population stratification (PS) is a primary consideration in studies of the genetic determinants of human traits. Failure to control for it may lead to confounding, causing a study to fail for lack of significant results or resources to be wasted following false-positive signals. Here we review historical and current approaches for addressing PS when performing genetic association studies in human populations. We describe methods for detecting the presence of PS including global and local ancestry methods. We also describe approaches for accounting for PS when calculating association statistics, such that measures of association are not confounded. This is particularly important since many traits are being examined in minority populations, populations that may inherently feature PS. Curr. Protoc. Hum. Genet. 73:1.22.1-1.22.14. © 2012 by John Wiley & Sons, Inc.

Keywords:

  • population stratification;
  • association confounding;
  • global ancestry;
  • local ancestry;
  • admixture