Approved research

Exome sequence analysis of endometriosis

Lay summary

Endometriosis is a common disorder affecting up to 10% of women of childbearing age. Its cause is not well defined, and it often goes undiagnosed for many years and leads to pain and infertility. The aims of this study is to identify rare genetic variants, taking into account the known common genetic variants that may predispose to endometriosis. In aim 1 we will specifically search for rare variants that occur in the known genetic regions that carry common variants for endometriosis; about 30 such regions exist. In aim 2 we will determine whether the burden of common variants, or polygenic risk score for endometriosis, affects the likelihood of identifying rare variants with predicted deleterious effects across the genome, and thus enhance our likelihood of observing such variants. We will further ask if these rare variants interact with other variants, common or rare, to influence risk. Finally, in aim 3, we will study the function of variants of interest in our local endometriosis popualtions. The public health impact of identifying new causative genetic variants for endometriosis is large, since both diagnosis and treatment of this disease is highly unsatisfactory at the current time.