Do genes play a role in endometriosis?

A meta-analysis of data from more than 17,000 cases of endometriosis suggest that specific genes involved in sex steroid hormone signaling and function may play a role in the disorder. The findings, by a team of multinational authors, were published in Nature.

Endometriosis is known to be hormone-dependent but the molecular mechanisms underlying it remain unknown. To explore those mechanisms, the researchers analyzed 11 genome-wide association case-control data sets of European and Japanese ancestries. In total, the data were from 17,045 cases and 191,596 controls. Through their research, they were able to replicate 9 of the 11 loci of risk previously found in European cases. 

The researchers also identified 5 novel loci significantly associated with risk of endometriosis (P < 5 x 10^-8). The genes implicated-FN1, CCDC170, ESR1, SYNE1 and FSHB-are all involved in sex steroid hormone pathways. Conditional analysis identified 5 secondary association signals that resulted in 19 single nucleotide polymorphisms (SNPs) robustly associated with endometriosis, which the authors said explain up to 5.19% of variance in endometriosis.

Their results, the authors concluded, highlight novel variants in or near specific genes with important roles in sex steroid hormone signalling and function, which they believe offer unique opportunites for more targeted functional research on endometriosis.