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Population Substructure in Association Studies

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The Fundamentals of Modern Statistical Genetics

Part of the book series: Statistics for Biology and Health ((SBH))

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Abstract

Genetic association studies using population-based designs have distinct features that make them an attractive approach for gene mapping. Similar to epidemiological studies, they typically use unrelated individuals. As a consequence, the study recruitment is relatively easy and the statistical analysis is straight-forward to implement using standard statistical analysis techniques. This provides population-based designs with an advantage over other designs. Since epidemiological studies have a long tradition in biomedical research and are available for many complex diseases that are expected to have a genetic component, existing epidemiological studies can be converted into genetic association studies without much effort if the DNA of the study subjects is available, e.g., blood samples, etc. The study subjects have to be genotyped at the genetic marker loci, but often no additional phenotyping or, even, recruitment of subjects is required.

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Correspondence to Nan M. Laird .

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Laird, N.M., Lange, C. (2011). Population Substructure in Association Studies. In: The Fundamentals of Modern Statistical Genetics. Statistics for Biology and Health. Springer, New York, NY. https://doi.org/10.1007/978-1-4419-7338-2_8

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