A common interleukin-6 gene promoter polymorphism influences the clinical characteristics of women with polycystic ovary syndrome

Fertil Steril. 2004 Jun;81(6):1638-41. doi: 10.1016/j.fertnstert.2004.01.021.


Objective: To investigate the association of a common polymorphism of the interleukin-6 gene (IL6) promoter with the occurence and the clinical characteristics of polycystic ovary syndrome (PCOS).

Design: Prospective, case-control study.

Setting: Academic research institution.

Patient(s): Sixty-two patients with PCOS and 94 healthy controls.

Intervention(s): Peripheral venous puncture, ultrasonography, oral glucose tolerance test (OGTT), questionnaire.

Main outcome measure(s): Genotype analysis with respect to the common -174 G/C polymorphism of the IL6 gene promoter, analysis of testosterone (T), androstendione, and sex hormone binding globulin serum levels, and evaluation of the OGTT.

Result(s): Allele frequencies among women with PCOS and controls were 62.9% and 64.4%, respectively, for the wild-type G allele, and 37.1% and 35.6%, respectively, for the mutant C allele. We ascertained a significant association between presence of at least one mutant C allele and the clinical characteristics of affected women: these women were more likely to present with a body mass index >27 kg/m(2), elevated total T serum levels, and a pathological OGTT result.

Conclusion(s): A common polymorphism of the IL6 promoter, although not associated with the presence of PCOS, is associated with the clinical characteristics of women affected by this condition.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Alleles
  • Body Mass Index
  • Case-Control Studies
  • Female
  • Glucose Tolerance Test
  • Humans
  • Interleukin-6 / genetics*
  • Polycystic Ovary Syndrome / blood
  • Polycystic Ovary Syndrome / genetics
  • Polycystic Ovary Syndrome / physiopathology*
  • Polymorphism, Genetic*
  • Promoter Regions, Genetic / genetics*
  • Prospective Studies
  • Testosterone / blood


  • Interleukin-6
  • Testosterone