In the news

To identify genetic loci associated with susceptibility to endometriosis.

The researchers performed a genome-wide association study (GWAS) comparing more than 500,000 SNPs in 3,194 patients with endometriosis and 7,060 healthy male and female controls from Australia and the UK. Initial findings were followed up in a replication sample of 2,392 patients and 2,271 controls from the US. The two cohorts were combined in a meta-analysis.

This study reports an association on chromosome 7p15.2 (rs12700667) located close to genes (NFE2L3, HOXA10, HOXA11) involved in placental and uterine development. The researchers were also able to replicate an association on chromosome 1p36, located near a gene (WNT4) involved in ovarian follicle and reproductive tract development, when combining their data with that of a Japanese GWAS.

The authors conclude that this new locus on chromosome 7p15.2 is significantly associated with endometriosis risk in European women as well as replicating a previous finding on chromosome 1p36. Both associations were stronger when patients were sub-catergorised into those with moderate to severe disease and both regions contain interesting biologically-plausible candidate genes. 

This study not only identified a novel association in women of European ancestry but also replicated an association previously identified in a smaller Japanese population study. Both regions contain biologically interesting candidate genes and so further work is needed to try to identify whether these candidate genes are causally involved in the development of endometriosis. The principal association from this study was estimated to account for less than 1% of the 51% heritability attributed to genetic factors and so much work remains to identify additional genetic risk loci as well as how these loci interplay with each other as well as with the environment.