Mapping complex disease loci in whole-genome association studies.

Publication Type:

Journal Article


Nature, Volume 429, Issue 6990, p.446-52 (2004)


DISEASE, Genetic Linkage, Genetic Predisposition to Disease, Genetics, Medical, Genome, Human, Humans, PHENOTYPE, Polymorphism, Single Nucleotide


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.