A detailed investigation into potential genes and their variants regulatory sequences causing endometriosis and how the environment may impact upon these.

Abstract

Introduction Endometriosis is an inflammatory and chronic gynaecological condition leading to infertility and severe chronic pelvic pain. Although effecting 10% of women worldwide, there is limited knowledge on the aetiology and pathophysiology of the disease. Research into the condition has shown that a woman is 10 times more likely to develop endometriosis if a close family member (e.g., mother or sister) has also been diagnosed. These observations suggest that endometriosis may have a genetic component. The aim of this project was to carry out a detailed investigation of genetic factors and their interactions with the environment (e.g. EDCs) which potentially predispose an individual to endometriosis development. Methods A combination of a literature review and data interrogation in the Genomics England 100,000 genomes project were undertaken to identify endometriosis-related genetic loci that could be susceptible to environmental pollutants. Results 57 genes were identified to have a role in increasing the risk of endometriosis development. The incidence of potentially pathogenic variants of these 57 genes was explored through data analysis from the Genomics England 100,000 genome database. Five genes and associated variants were identified in women affected by endometriosis that were also sensitive to environmental insults. These were CNR1, IL-6, IDO1, KISSR1, and TACR3. EDCs are commonly found as part of cosmetics and other personal care items routinely used by women. Conclusion The findings of this project suggest that a genetic susceptibility to developing endometriosis could be exacerbated by the presence of environmental pollutants.