A multicenter case-control study on screening of single nucleotide polymorphisms in estrogen-metabolizing enzymes and susceptibility to uterine leiomyoma in han chinese

Gynecol Obstet Invest. 2014;77(4):224-30. doi: 10.1159/000360083. Epub 2014 Apr 23.

Abstract

Uterine leiomyoma (UL) is an estrogen-responsive benign tumor in the female reproductive system and the main risk of hysterectomy for women. However, gene polymorphism of estrogen-metabolizing enzymes may lead to the different susceptibility to UL. We detected 10 single mucleotide polymorphisms in three key estrogen metabolite enzymes (COMT, CYP1A1, CYP1B1) in a Chinese Han population consisting of 800 patients and 800 healthy women from five different medical centers. The genetic polymorphism of rs3087869 (IVS1+2329C>T) (OR 3.200, 95% CI 1.614-6.345) and rs4680 (Val158Met) (OR 5.675, 95% CI 2.696-11.942) loci on COMT, rs1048943 (Ile462Val) (OR 4.629, 95% CI 2.216-9.672) and rs4646422 (Gly45Asp) (OR 3.240, 95% CI 1.624-6.461) loci on CYP1A1 and rs1065827 (Ala119Ser) (OR 5.635, 95% CI 2.990-10.619) locus on CYP1B1 were the risk factors to UL development and rs1056836 (Leu432Val) (OR 0.188, 95% CI 0.061-0.575) locus on CYB1B1 may be the protective factor to UL. The results provide a theoretical basis for genetic screening and early intervention to UL-susceptible populations.

Publication types

  • Multicenter Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Asian People
  • Biomarkers, Tumor / genetics*
  • Case-Control Studies
  • Catechol O-Methyltransferase / genetics*
  • China
  • Cytochrome P-450 CYP1A1 / genetics*
  • Cytochrome P-450 CYP1B1 / genetics*
  • Female
  • Genetic Markers
  • Genetic Predisposition to Disease
  • Humans
  • Leiomyoma / ethnology
  • Leiomyoma / genetics*
  • Logistic Models
  • Middle Aged
  • Multivariate Analysis
  • Polymorphism, Single Nucleotide*
  • Risk Factors
  • Sequence Analysis, DNA
  • Uterine Neoplasms / ethnology
  • Uterine Neoplasms / genetics*

Substances

  • Biomarkers, Tumor
  • Genetic Markers
  • CYP1A1 protein, human
  • CYP1B1 protein, human
  • Cytochrome P-450 CYP1A1
  • Cytochrome P-450 CYP1B1
  • COMT protein, human
  • Catechol O-Methyltransferase