Genetic association studies: discovery of the genetic basis of renal disease

Nephron Clin Pract. 2011;119(3):c236-9. doi: 10.1159/000326685. Epub 2011 Aug 18.


Genetic association studies are a means to investigate the causal role of genes in diseases in order to unravel pathways involved in the etiology of disease. There are two types of genetic association studies: hypothesis-driven studies, i.e. candidate gene studies, targeting genes with a known or presumed role in pathways or diseases of interest, and non-hypothesis-driven studies, i.e. genome-wide association studies, aiming for the discovery of new genetic associations. This educational article is an introduction to genetic association studies for nephrologists and researchers in the domain of kidney disease.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • False Negative Reactions
  • False Positive Reactions
  • Genetic Variation
  • Genome-Wide Association Study
  • Genotype
  • Humans
  • Kidney Diseases / genetics*