Genome-wide Association Studies and Human Disease
From Trickle to Flood
- Peter M. Visscher, PhD;
- Grant W. Montgomery, PhD
- Author Affiliations: Department of Statistical Genetics (Dr Visscher) and Department of Molecular Epidemiology (Dr Montgomery), Queensland Institute of Medical Research, Brisbane, Australia.
Since this article does not have an abstract, we have provided the first 150 words of the full text.
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.
In the last 3 years, almost 1000 variants associated with a range of human traits and common diseases have been identified using genome-wide association methods (Figure).1,2 To date, most of these studies have been in populations of European descent.
SNPs indicates single-nucleotide polymorphisms.
Data are adapted from the National Human Genome Research Institute1 at http://www.genome.gov/gwastudies/.
Genome-wide search strategies developed from advances …
