Gene research raises hope for better endometriosis diagnosis and treatment

Identification of 2 genetic variants that increase the risk of developing endometriosis could lead to more effective diagnosis and treatment, researchers say.

A susceptibility locus for endometriosis has been found on chromosome 7p15, reports a genome-wide association study published online December 12 in Nature Genetics. Chromosome 7 is believed to play a role in regulating genes that develop the uterus and its lining. Researchers also found that chromosome 1-located near a gene that influences hormone metabolism and development of the female reproductive tract-helps determine endometriosis risk.

“Our study is a breakthrough because it provides the first strong evidence that variations in DNA make some women more likely to develop endometriosis,” says study co-author Krina T Zondervan, MD, a research fellow at the University of Oxford, United Kingdom. “We now need to understand the effect of these variations on cells and molecules in the body.”

“We have great confidence that the results of this study will help towards developing less invasive methods of diagnosis and more effective treatment for endometriosis,” adds Stephen Kennedy, MD, senior author of the study and head of the Nuffield department of obstetrics and gynecology at the University of Oxford. Currently laparoscopy under general anesthesia is the only way to diagnose endometriosis. Surgery and hormonal drugs are the only treatments.

The researchers identified the genetic variants by comparing the genomes of 5,586 women with surgically confirmed endometriosis and 9,331 healthy volunteers from the United States, United Kingdom, and Australia.