These researchers conducted a genome-wide association study (GWAS) in 3,194 individuals with surgically confirmed endometriosis (cases) and 7,060 controls from Australia and the UK.
Predictive modeling showed significantly increased genetic loading among 1,364 cases with moderate to severe endometriosis. The strongest association signal was on 7p15.2 for ‘all’ endometriosis (OR = 1.22) and for moderate to severe disease (OR = 1.38). They replicated rs12700667 in an independent cohort from the United States of 2,392 self-reported, surgically confirmed endometriosis cases and 2,271 controls (OR = 1.17).
A great deal of effort and expense was deployed by 22 co-authors to find a weak association with a gene on the short arm of chromosome 7 in some cases of endometriosis – which we know to result largely from acquired injuries to pelvic nerves.
There is not a great deal that I can usefully say about this “breakthrough”.