Author Affiliations: Department of Statistical Genetics (Dr Visscher) and Department of Molecular Epidemiology (Dr Montgomery), Queensland Institute of Medical Research, Brisbane, Australia.
Many common complex diseases such as hypertension, diabetes, coronary heart disease, psychiatric disorders, and some cancers have a genetic etiology. Despite enormous efforts over the last few decades, little real progress was made in finding the genes and causal variants involved. Genome-wide association studies, in which hundreds of thousands of DNA markers are tested (usually in a case-control design) for association with disease, provide the first effective approach to search for genetic variants that contribute to the complex etiology of common human diseases.
Visscher PM, Montgomery GW. Genome-wide Association Studies and Human DiseaseFrom Trickle to Flood. JAMA. 2009;302(18):2028-2029. doi:10.1001/jama.2009.1643