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Nature 429, 446-452 (27 May 2004) | doi:10.1038/nature02623
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review article Mapping complex disease loci in whole-genome association studies
Christopher S. Carlson1, Michael A. Eberle3, Leonid Kruglyak2,3 & Deborah A. Nickerson1
Abstract
Identification of the genetic polymorphisms that contribute to susceptibility for common diseases such as type 2 diabetes and schizophrenia will aid in the development of diagnostics and therapeutics. Previous studies have focused on the technique of genetic linkage, but new technologies and experimental resources make whole-genome association studies more feasible. Association studies of this type have good prospects for dissecting the genetics of common disease, but they currently face a number of challenges, including problems with multiple testing and study design, definition of intermediate phenotypes and interaction between polymorphisms.
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