Understanding the Pathogenesis of Endometriosis: Gene Mapping Studies

Endometriosis is a common gynecological disease associated with severe pelvic pain and subfertility. Genetic variation contributes to disease risk and gene mapping studies offer an important approach to understanding the biology of endometriosis. Candidate gene studies have not identified any genes robustly associated with endometriosis, since most published studies had limited power to detect the modest effects expected for individual risk variants. Linkage studies for the disease identified several linkage peaks, but the gene(s) contributing to these linkage signals have not been identified. Genome-wide association studies provide a powerful approach to the discovery of genes or variants contributing to disease risk and several groups have now conducted genome-wide association studies for endometriosis. While these studies have highlighted a number of chromosomal areas harboring interesting candidate genes that should be investigated further, based on experience with other diseases we will need to collect further large and well-characterized samples for endometriosis to identify a comprehensive set of the variants contributing most to endometriosis risk. © 2012 Blackwell Publishing Ltd.