Genome-wide association studies for common diseases and complex traits

Nat Rev Genet. 2005 Feb;6(2):95-108. doi: 10.1038/nrg1521.


Genetic factors strongly affect susceptibility to common diseases and also influence disease-related quantitative traits. Identifying the relevant genes has been difficult, in part because each causal gene only makes a small contribution to overall heritability. Genetic association studies offer a potentially powerful approach for mapping causal genes with modest effects, but are limited because only a small number of genes can be studied at a time. Genome-wide association studies will soon become possible, and could open new frontiers in our understanding and treatment of disease. However, the execution and analysis of such studies will require great care.

Publication types

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

MeSH terms

  • Animals
  • Genetic Predisposition to Disease*
  • Genetic Variation / genetics*
  • Genome*
  • Humans
  • Linkage Disequilibrium / genetics*
  • Multifactorial Inheritance / genetics
  • Quantitative Trait, Heritable*
  • Sequence Analysis, DNA / methods