NEJM -- Genomewide Association Studies and Assessment of the Risk of Disease

Volume 363:166-176 July 8, 2010 Number 2

Genomewide Association Studies and Assessment of the Risk of Disease

Teri A. Manolio, M.D., Ph.D.

Genomewide association studies — in which hundreds of thousands of single-nucleotide polymorphisms (SNPs) are tested for association with a disease in hundreds or thousands of persons (Figure 1) — have revolutionized the search for genetic influences on complex traits.1,2 Such conditions, in contrast with single-gene disorders, are caused by many genetic and environmental factors working together, each having a relatively small effect and few if any being absolutely required for disease to occur. Although complex conditions have been referred to as the geneticist's nightmare,3 in the past 5 years genomewide association studies have identified SNPs implicating hundreds of robustly replicated loci (i.e., specific genomic locations) for common traits.4


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NEJM -- Genomewide Association Studies and Assessment of the Risk of Disease