Screening of a panel of steroid-related genes showed polymorphisms of aromatase genes confer susceptibility to advanced stage endometriosis in the Taiwanese Han population

Taiwan J Obstet Gynecol. 2013 Dec;52(4):485-92. doi: 10.1016/j.tjog.2013.10.006.

Abstract

Objective: To establish a multilocus model for studying the effect of steroid-related genes on advanced stage endometriosis.

Materials and methods: A total of 121 patients with advanced stage endometriosis and 171 control women were included. Eighteen single-nucleotide polymorphisms (SNPs) from nine genes (HSD17B1, HSD17B2, HSD17B5, HSD17B6, CYP17, CYP19, ERα, ERβ, and PGR) were genotyped using the TaqMan assays. Logistic regression models were used to evaluate the genetic effects, with adjustment for other covariates.

Results: Only the presence of the mutant CYP19 (aromatase gene) was associated with a significantly increased risk of endometriosis after adjusting for age, BMI, and parity (p = 0.002, OR = 2.69; 95% CI = 1.44-5.02). No association was ascertained between the other investigated SNPs and endometriosis.

Conclusion: Polymorphisms of the aromatase gene confer susceptibility to advanced stage endometriosis in the Taiwanese Han population.

Keywords: endometriosis; polymorphism; steroid-related genes.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • 3-Hydroxysteroid Dehydrogenases / genetics
  • Adult
  • Aldo-Keto Reductase Family 1 Member C3
  • Aromatase / genetics*
  • Asian People / genetics*
  • Case-Control Studies
  • Endometriosis / ethnology
  • Endometriosis / genetics*
  • Estradiol Dehydrogenases / genetics
  • Estrogen Receptor alpha / genetics
  • Estrogen Receptor beta / genetics
  • Female
  • Genetic Predisposition to Disease*
  • Genotype
  • Humans
  • Hydroxyprostaglandin Dehydrogenases / genetics
  • Polymorphism, Single Nucleotide
  • Racemases and Epimerases / genetics
  • Receptors, Progesterone / genetics
  • Steroid 17-alpha-Hydroxylase / genetics
  • Taiwan
  • Young Adult

Substances

  • Estrogen Receptor alpha
  • Estrogen Receptor beta
  • Receptors, Progesterone
  • 3-Hydroxysteroid Dehydrogenases
  • Hydroxyprostaglandin Dehydrogenases
  • AKR1C3 protein, human
  • Aldo-Keto Reductase Family 1 Member C3
  • Estradiol Dehydrogenases
  • HSD17B1 protein, human
  • HSD17B2 protein, human
  • Aromatase
  • Steroid 17-alpha-Hydroxylase
  • HSD17B6 protein, human
  • Racemases and Epimerases