SNPwatch: Genetic Variation Associated with Endometriosis in Asian Women Identified

Endometriosis, one of the most common gynecological conditions, occurs when tissue from the lining of the uterus implants elsewhere in the body–most commonly the fallopian tubes, the ovaries or the pelvis.  

This tissue responds to hormonal cycles by thickening, breaking down and bleeding each month. The blood can become trapped, irritating surrounding tissue and leading to cysts and scars. Because relatives of women with endometriosis are about seven times more likely to be affected themselves, there is thought to be a strong genetic component to the condition.

Japanese researchers recently identified a common genetic variant that appears to be associated with increased risk of developing endometriosis.

This finding, published in the journal Nature Genetics, may shed light on the underlying biology of this condition that affects an estimated 2-10% of women of reproductive age, and could perhaps one day facilitate new methods of prevention or treatment.

Satoko Uno and colleagues analyzed the DNA of a total of 1,423 women with endometriosis and 1,318 controls, all from Japan.   At first the researchers did not find any SNPs that had statistically significant associations with the condition.   However, when they took the 100 strongest associations and followed them up in an additional 484 women with endometriosis and 3,974 controls, they found evidence for association for one SNP located in the CDKN2BAS gene, which regulates genes known to be involved in cell division, including CDKN2A.   Based on previous research, the scientists suggest that regulation of CDKN2A might be critical for controlling cell growth in endometrial tissue.
