OBJECTIVE
To evaluate the relationship between common genetic variation in genes involved in the biosynthesis and signaling of estrogen and progesterone and endometriosis risk.
DESIGN
Genetic polymorphism analysis.
SETTING
Population-based case-control study conducted in Group Health Cooperative enrollees in Western Washington.
PATIENT(S)
Women with newly diagnosed, surgically confirmed endometriosis between 1996 and 2001 (n=256), and age and reference year matched female controls without a history of endometriosis (n=567).
INTERVENTIONS(S)
None.
MAIN OUTCOME MEASURE
We evaluated the relationship between common genetic variation and endometriosis risk, using gene-based tests and single variant analysis of genetic polymorphisms in ESR1, ESR2, PGR, CYP17A1, CYP19A1, HSD17B1, HSD17B2, CYP1A1, CYP1A2, COMT and GSTM1.
RESULTS
The most consistent gene-based association with endometriosis risk was for CYP19A1 (p-value = 0.02). We did not find evidence for consistent significant associations between previously reported candidate SNPs in sex hormone-related genes and endometriosis risk.
CONCLUSION
In summary, we report increased endometriosis risk with CYP19A1 gene-based tests; replication of the association between endometriosis and this gene or gene region is necessary in a larger study population.