026. Endometriosis — linkage, positional cloning and genome wide association

Abstract

Endometriosis is a complex disease which affects up to 10% of women in their reproductive years. Common symptoms include severe dysmenorrhea and pelvic pain. The disease is associated with subfertility and some malignancies. Genetic and environmental factors both influence endometriosis. The aim of our studies is to identify genetic variation contributing to endometriosis and define pathways leading to disease. We recruited a large cohort of affected sister pair (ASP) families where two sisters have had surgically confirmed disease and conducted a 10 cM genome scan. The results of the linkage analysis identified one chromosomal region with significant linkage and one region of suggestiv..