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

Fertil Steril. 2011 Dec;96(6):1401-1406.e3. doi: 10.1016/j.fertnstert.2011.09.004. Epub 2011 Sep 28.


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.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aromatase / genetics
  • Aromatase / metabolism
  • Case-Control Studies
  • Endometriosis / genetics*
  • Endometriosis / metabolism
  • Female
  • Genetic Association Studies*
  • Genetic Variation*
  • Gonadal Steroid Hormones / genetics
  • Gonadal Steroid Hormones / metabolism*
  • Humans
  • Metabolic Networks and Pathways / genetics*
  • Middle Aged
  • Polymorphism, Single Nucleotide
  • Receptors, Estrogen / genetics
  • Receptors, Estrogen / metabolism
  • Steroid 17-alpha-Hydroxylase / genetics
  • Steroid 17-alpha-Hydroxylase / metabolism
  • Uterine Diseases / genetics*
  • Uterine Diseases / metabolism
  • Young Adult


  • Gonadal Steroid Hormones
  • Receptors, Estrogen
  • Aromatase
  • Steroid 17-alpha-Hydroxylase