Genetic variation in the sex hormone metabolic pathway and endometriosis risk: an evaluation of candidate genes.

Publication Type:

Journal Article


Fertility and sterility, Volume 96, Issue 6, p.1401-1406.e3 (2011)


2011, Adolescent, Adult, Aromatase, Case-Control Studies, Center-Authored Paper, Endometriosis, Female, Genetic Association Studies, Genetic Variation, Gonadal Steroid Hormones, Humans, Metabolic Networks and Pathways, October 2011, Polymorphism, Single Nucleotide, Public Health Sciences Division, Receptors, Estrogen, Shared Resources, Specimen Processing Core Facility, Steroid 17-alpha-Hydroxylase, Uterine Diseases, Young Adult


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 control subjects without a history of endometriosis (n = 567). INTERVENTIONS(S): None. MAIN OUTCOME MEASURE(S): 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. RESULT(S): The most consistent gene-based association with endometriosis risk was for CYP19A1. We did not find evidence for consistent significant associations between previously reported candidate SNPs in sex hormone-related genes and endometriosis risk. CONCLUSION(S): 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.