Association between endometriosis and genetic polymorphisms of the estradiol-synthesizing enzyme genes HSD17B1 and CYP19

M. Tsuchiya, H. Nakao, T. Katoh*, H. Sasaki, M. Hiroshima, T. Tanaka, Tadashi Matsunaga, T. Hanaoka, S. Tsugane, T. Ikenoue

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

52 Citations (Scopus)


Background: Endometriosis, an estrogen-dependent disease, is believed to be influenced by multiple genetic and environmental factors. Here, we evaluated whether the risk and severity of endometriosis are associated with polymorphisms in estradiol-synthesizing enzyme genes: the Ser312Gly polymorphism in 17-beta-hydroxysteroid dehydrogenase type 1 (HSD17B1) and the Arg264Cys polymorphism in cytochrome P450, subfamily XIX (CYP19). Methods: All participants underwent diagnostic laparoscopy, and the stage of endometriosis was determined according to the Revised American Fertility Society classification. Of the 138 women enrolled, 59 had no endometriosis, 21 had stage I, 10 had stage II, 23 had stage III and 25 had stage IV. SNPs were discriminated by allele-specific oligonucleotide hybridization. Results: Individuals having at least one A-allele (A/G or A/A genotype) of HSD17B1 showed a significantly increased risk of endometriosis (A/G genotype: adjusted OR, 3.06; 95% CI 1.21-7.74; A/A genotype: adjusted OR, 3.02; 95% CI 1.08-8.43). There was a significant trend associating A/G + A/A genotypes with severity of endometriosis (P for trend <0.01). No statistically significant association was found for the CYP19 polymorphism. Conclusions: Evidence for association between the Ser312Gly polymorphism in HSD17B1 and endometriosis was found in a Japanese population. The A-allele of HSD17B1 appears to confer higher risk for endometriosis.

Original languageEnglish
Pages (from-to)974-978
Number of pages5
JournalHuman Reproduction
Issue number4
Publication statusPublished - 2005 Apr
Externally publishedYes


  • CYP19
  • Endometriosis
  • Estrogen synthesis
  • Genetic polymorphism
  • HSD17B1

ASJC Scopus subject areas

  • Physiology
  • Developmental Biology
  • Obstetrics and Gynaecology
  • Reproductive Medicine


Dive into the research topics of 'Association between endometriosis and genetic polymorphisms of the estradiol-synthesizing enzyme genes HSD17B1 and CYP19'. Together they form a unique fingerprint.

Cite this