Epistasis between FSHR and CYP19A1 polymorphisms is associated with premature ovarian failure

Fertil Steril. 2011 Jun 30;95(8):2585-8. doi: 10.1016/j.fertnstert.2010.12.042. Epub 2011 Jan 26.

Abstract

Follicle-stimulating hormone secreted from the pituitary gland plays a key role in human reproduction and regulates estrogen production by acting on the regulatory region of CYP19A1. We observed a significant association between premature ovarian failure and the combined genetic effect of single nucleotide polymorphism (SNP) rs4646 (CA+AA) in the 3' untranslated region of CYP19A1 and the missense FSHR SNP rs6166 (AG+GG) genotype (odds ratio 5.42, 95% confidence interval 1.96-14.98), and we identified a significant association between premature ovarian failure and the combined genetic effect of the FSHR missense SNP rs6166 (AA) and the rs4646-rs10046 haplotype (C-T)+(C-C) (odds ratio 5.47, 95% confidence interval 2.03-14.75), suggesting that two biochemical pathways may be involved in the regulation of folliculogenesis.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • 3' Untranslated Regions
  • Aromatase / genetics*
  • Case-Control Studies
  • Chi-Square Distribution
  • Epistasis, Genetic*
  • Female
  • Gene Frequency
  • Genetic Predisposition to Disease
  • Haplotypes
  • Humans
  • Mutation, Missense
  • Odds Ratio
  • Ovary / physiopathology*
  • Phenotype
  • Polymorphism, Single Nucleotide*
  • Primary Ovarian Insufficiency / enzymology
  • Primary Ovarian Insufficiency / genetics*
  • Primary Ovarian Insufficiency / physiopathology
  • Receptors, FSH / genetics*
  • Republic of Korea
  • Risk Assessment
  • Risk Factors

Substances

  • 3' Untranslated Regions
  • Receptors, FSH
  • Aromatase