Genome-wide association study identifies variations in the DNA of women that predispose them to developing endometriosis

This is the first genome-wide association study to give robust evidence of variations in the DNA of women with endometriosis, showing that moderate-to-severe endometriosis is significantly more genetically driven than minimal-to-mild disease.

Researchers in the UK, Australia and USA have identified two regions on chromosomes 7 and 1 associated with endometriosis, a disease which can cause severe pelvic pain and infertility in women. The study, published today in Nature Genetics [1], gives the first robust evidence of variations in the DNA of women with endometriosis of European ancestry that predispose them to developing the condition, which affects an estimated 176 million women worldwide during their reproductive years.

References: 1. Painter JL, et al. Genome-wide association study identifies a locus at 7p15.2 associated with endometriosis. Nature Genetics doi: 10.1038/ng.731

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