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Genome Wide Association Studies

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Book cover The Fundamentals of Modern Statistical Genetics

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

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Abstract

The key requirement for genetic association, linkage disequilibrium (LD), is a short distance property that extends only for a limited physical distance across the human genome. As we showed in Chapter 7, if there is low LD between the genotyped marker and the DSL, there will be low power to detect association between the disease and the DSL. In the early years of association testing, the strategy was mainly used to test specific regions, e.g., genes which were selected on the basis of function relative to the biology of the disease, or on the basis of linkage analysis. By restricting testing to a small enough region, markers can be selected for testing which should be in LD with the DSL anywhere in the region. In particular, SNPs in the coding region of a gene are often chosen as markers. With Genome Wide Association Studies (GWAS) the idea is instead to cover the entire genome with a sufficiently dense set of SNPs that all untyped polymorphsims (including DSLs) are in reasonably high LD with a tested SNP. For this reason, GWAS studies are sometimes called ‘unbiased’ because every region of the genome is searched, not just those meeting determined selection criteria.

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Authors and Affiliations

  1. Department of Biostatistics, Harvard University, Boston, MA, 02115, USA

    Nan M. Laird & Christoph Lange

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  1. Nan M. Laird
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  2. Christoph Lange
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Correspondence to Nan M. Laird .

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Laird, N.M., Lange, C. (2011). Genome Wide 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_11

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