Mapping complex disease loci in whole-genome association studies

Nature. 2004 May 27;429(6990):446-52. doi: 10.1038/nature02623.


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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.
  • Review

MeSH terms

  • Disease*
  • Genetic Linkage / genetics
  • Genetic Predisposition to Disease / genetics*
  • Genetics, Medical*
  • Genome, Human*
  • Humans
  • Phenotype
  • Polymorphism, Single Nucleotide / genetics