Researchers Fail to Find Association Between Specific Gene Mutation and Endometriosis

Researchers Fail to Find Association Between Specific Gene Mutation and Endometriosis

Recent findings have shown that a specific gene change, called an nm23 polymorphism, does not appear to affect the risk of endometriosis. The study, titled “Association between nm23 gene polymorphisms and the risk of endometriosis,” appeared in the journal Biomedical Reports.

The nm23 gene, also known as NME1, is what is known as a tumor suppressor gene. Researchers have found that its expression may be reduced in a variety of cancers and in endometriosis, leading the team to further understand whether a nm23 polymorphism could change the risk of developing endometriosis.

Led by Xi Huang of the Department of Molecular Biology, The Fourth Hospital of Hebei Medical University, Shijiazhuang, and collaborators, the team studied 379 women with endometriosis and 384 unrelated healthy controls. None of the participants were receiving hormone treatments and all were diagnosed using standard exam procedures. The researchers used established measurements to determine the severity of the disease, including the revised American Fertility Society classification. They performed blood draws and genotyped all of the participants to look for changes in the nm23 gene using blood DNA. All of the study subjects were from Northern China and of Han ethnicity, with an average age of 35 (range 18-51).

Surprisingly, the researchers failed to find an association between the gene polymorphim and endometriosis, noting that “there were no statistical differences in the distribution of nm23 genotypes between patients with [endometriosis] and the control group.”

In their study report, the researchers concluded that “the findings in the present pilot study suggest that nm23 polymorphisms do not contribute to [endometriosis] susceptibility. However, more studies in larger populations are required to confirm these results.”

It seems that this particular genetic mutation does not contribute to endometriosis in the population studied. However, because a very specific group of individuals was included in the study, it is possible that the gene remains a susceptibility factor for other patient populations, which needs to be further investigated in a search for specific biomarkers and susceptibility factors for endometriosis.

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