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A population is composed of members of the same species that simultaneously live and interact in the same area. When individuals in a population breed, they pass down their genes to their offspring. Many of these genes are polymorphic, meaning that they occur in multiple variants. Such variations of a gene are referred to as alleles. The collective set of all the alleles within a population is known as the gene pool.
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When more than one gene is responsible for a given phenotype, the trait is considered polygenic. Human height is a polygenic trait. Studies have uncovered hundreds of loci that influence height, and there are believed to be many more. Due to the high number of genes involved, as well as environmental and nutritional factors, height varies significantly within a given population. The distribution of height forms a bell-shaped curve, with relatively few individuals in the population at the...
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Population Stratification in Genetic Association Studies.

Jacklyn N Hellwege1, Jacob M Keaton1, Ayush Giri1

  • 1Vanderbilt Genetics Institute, Division of Epidemiology, Department of Medicine, Vanderbilt University Medical Center, Nashville, Tennessee.

Current Protocols in Human Genetics
|October 19, 2017
PubMed
Summary
This summary is machine-generated.

Population stratification (PS) can confound genetic association studies. This review covers methods to detect and correct for PS, ensuring reliable results in human populations, especially minority groups.

Keywords:
admixtureadmixture mappingassociation confoundingglobal ancestrylocal ancestrypopulation stratification

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Area of Science:

  • Human genetics
  • Population genetics
  • Statistical genetics

Background:

  • Population stratification (PS) is a critical factor in genetic studies of human traits.
  • Failure to address PS can lead to confounding, resulting in failed studies or false-positive findings.
  • Minority populations often exhibit inherent PS, necessitating careful consideration.

Purpose of the Study:

  • To review historical and current methods for addressing population stratification in genetic association studies.
  • To provide an overview of techniques for detecting and accounting for PS.
  • To emphasize the importance of managing PS in diverse populations.

Main Methods:

  • Review of existing literature on population stratification.
  • Description of methods for detecting PS, including global and local ancestry approaches.
  • Explanation of statistical methods to control for PS in association analyses.

Main Results:

  • Identified various methods for detecting population stratification.
  • Detailed approaches for adjusting association statistics to mitigate confounding by PS.
  • Highlighted the increased relevance of PS in studies of minority populations.

Conclusions:

  • Controlling for population stratification is essential for valid genetic association studies.
  • Effective methods exist for both detecting and correcting for PS.
  • Proper handling of PS is crucial for accurate genetic research, particularly in diverse populations.