Mapping complex disease loci in whole-genome association studies.

Carlson, Christopher S; Eberle, Michael A; Kruglyak, Leonid; Nickerson, Deborah A · Nature · 2004

review · Level V

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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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