Progesterone receptor gene polymorphisms and risk of endometriosis: results from an international collaborative effort

Fertil Steril. 2011 Jan;95(1):40-5. doi: 10.1016/j.fertnstert.2010.06.059. Epub 2010 Aug 17.

Abstract

Objective: To investigate the association between self-reported endometriosis and the putative functional promoter +331C/T single nucleotide polymorphism and the PROGINS allele.

Design: Control subjects from ovarian cancer case-control studies participating in the international Ovarian Cancer Association Consortium. The majority of controls are drawn from population-based studies.

Setting: An international ovarian cancer consortium including studies from Australia, Europe, and the United States.

Patient(s): Five thousand eight hundred twelve white female controls, of whom 348 had endometriosis, from eight ovarian cancer case-control studies.

Intervention(s): None.

Main outcome measure(s): Genotypes for the +331C/T single nucleotide polymorphism and PROGINS allele and a history of endometriosis.

Result(s): The occurrence of endometriosis was reduced in women carrying one or more copies of the +331 T allele (odds ratio=0.65; 95% confidence interval: 0.43-0.98), whereas there was no association between the PROGINS allele and endometriosis (odds ratio=0.94, 95% confidence interval 0.76-1.16).

Conclusion(s): Additional studies of the +331C/T variant are warranted given the current finding and the equivocal results of previous studies. The +331 T allele has been shown to result in a reduced progesterone (P) receptor A to P receptor B ratio, and if the observed association with endometriosis is confirmed it would suggest that this ratio is important for this disease.

Publication types

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

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Aged, 80 and over
  • Australia / epidemiology
  • Cooperative Behavior
  • Endometriosis / epidemiology*
  • Endometriosis / genetics*
  • Europe / epidemiology
  • Female
  • Genetic Predisposition to Disease / epidemiology
  • Genotype
  • Humans
  • International Cooperation
  • Middle Aged
  • Polymorphism, Single Nucleotide*
  • Promoter Regions, Genetic / genetics
  • Receptors, Progesterone / genetics*
  • Risk Factors
  • United States / epidemiology
  • Young Adult

Substances

  • Receptors, Progesterone
  • progesterone receptor A
  • progesterone receptor B