SNPwatch: Genetic Variation Associated with Endometriosis in Asian Women Identified

Editor’s note: Pending an FDA decision, 23andMe no longer offers new customers access to health reports referred to in this post. Customers who purchased prior to November 22, 2013 will still be able to see their health reports, but those who purchased after that time will not. Those customers will have access to ancestry information as well as access to their uninterpreted raw data.

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, .

Each copy of the A version of was associated with about 25% lower odds of endometriosis compared to having two Cs.

(23andMe Complete Edition customers can check their data for this SNP using the Browse Raw Data feature or as part of the Endometriosis Preliminary Research Report.)

is 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.

SNPwatch gives you the latest news about research linking various traits and conditions to individual genetic variations. These studies are exciting because they offer a glimpse into how genetics may affect our bodies and health; but in most cases, more work is needed before this research can provide information of value to individuals. For that reason it is important to remember that like all information we provide, the studies we describe in SNPwatch are for research and educational purposes only. SNPwatch is not intended to be a substitute for professional medical advice; you should always seek the advice of your physician or other appropriate healthcare professional with any questions you may have regarding diagnosis, cure, treatment or prevention of any disease or other medical condition.

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