Genetic variants linked to endometriosis discovered

An international team of researchers, including scientists at the Queensland Institute of Medical Research, have conducted the largest genome-wide association study (GWAS) to date and have identified two genetic variants that are associated with the gynaecological disease, endometriosis.

The finding should lead to improved diagnostic and predictive tests and will steer future research into the disease and its treatment.

Two regions on the genome were found to be linked to the disease, which affects between 6 and 10 per cent of all women of reproductive age.

The region with the strongest link to the disease was on chromosome 7 in a region that may regulate nearby genes which have already been associated with endometriosis.

This genetic variant appears to be significantly associated with risk of endometriosis particularly in women of European ancestry.

The study also provided more evidence that a previously discovered genetic variant on chromosome 1 is also associated with the disease.

This SNP lies close to a gene that is relevant to the development of the uterus and ovaries, suggesting a causal mechanism for the disease.

The study involved 5586 women with endometriosis and 9331 controls (both men and women) in Australia and the United Kingdom.

The researchers suggest that there are likely to be more genetic variants associated with endometriosis and they recommend that further studies should be conducted, particularly on individuals with confirmed moderate to severe cases of the disease to better identify the relevant genes and pathways.

The study was published today in Nature Genetics.