Endometriosis and PCOS Share Common Risk Genes

Having one or the other disease may cause the development of the other.

Key Points

Highlights

• There are significant genetic correlations between endometriosis and PCOS.

Importance:

• These findings shed light on the potential mechanisms of endometriosis and PCOS and could help researchers develop new therapies for both diseases.

What’s done here:

• Researchers analyzed data from public genome-wide association studies about 470,866 patients with endometriosis and 210,870 patients with PCOS.

Key results:

• 12 significant genes were shared between endometriosis and PCOS.The expressions of SYNE1 and DNM3 were significantly different in the endometrium of patients with endometriosis or PCOS compared to healthy people.

Limitations:

• Most people in the study were of European descent and the findings may not apply to other ethnicities.
• Only the top 10% of most specific genes were assessed.

Lay Summary

There is a genetic correlation and shared risk genes between endometriosis and polycystic ovary syndrome (PCOS), found a new study published in the scientific journal Frontiers in Endocrinology.

“These findings provide insights into the potential mechanisms behind their comorbidity and the future development of therapeutics,” according to the authors.

Previous research has already highlighted the similarities between the two conditions. However, the underlying genetic mechanisms between endometriosis and PCOS are lacking.

Here, a team of researchers led by Dr. Hongmei Xiao from the Institute of Reproductive & Stem Cell Engineering, Center of Reproductive Health, School of Basic Medical Science, Central South University, in Changsha, Hunan, China used data from public genome-wide association studies about 470,866 patients with endometriosis and 210,870 patients with PCOS. Using statistical analyses, the team assessed the possible genetic link between the two diseases.

They found that there was a positive genetic association between endometriosis and PCOS. More precisely, there were 12 significant genes shared between the two diseases. The genetic link between endometriosis and PCOS was particularly apparent in the uterus, lining of the uterus, and fallopian tubes, the tubes connecting the ovaries to the uterus. Statistical analysis also suggested that there may be a potential causative effect of endometriosis on PCOS, and vice versa. In other words, the presence of one disease may lead to the development of the other.

Finally, the researchers reported that the expressions of two genes, SYNE1 and DNM3 were significantly different in the endometria of patients with endometriosis or PCOS compared to people without either disease.

PCOS is characterized by high levels of hormones and small cysts on the ovaries.

Research Source: https://pubmed.ncbi.nlm.nih.gov/38742190/