Mapping complex disease loci in whole-genome association studies.
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.
Carlson
Christopher S
CS
Department of Genome Sciences, University of Washington, 1705 NE Pacific, Seattle, Washington 98195-7730, USA. csc47@u.washington.edu
Eberle
Michael A
MA
Kruglyak
Leonid
L
Nickerson
Deborah A
DA
D004194:Disease; D008040:Genetic Linkage / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005826:Genetics, Medical; D015894:Genome, Human; D006801:Humans; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide / Q000235:genetics