Polymorphisms in exons 1B and 1C of the type I interleukin-1 receptor gene in patients with endometriosis

Am J Reprod Immunol. 2006 Sep;56(3):178-84. doi: 10.1111/j.1600-0897.2006.00415.x.

Abstract

To study possible correlation between the prevalence of polymorphisms in the type I interleukin-1 receptor gene and pelvic endometriosis. Genotypes of 223 women were analyzed: 109 women with surgically and histologically confirmed endometriosis and 114 healthy women. Distributions of two single-base polymorphisms of the human interleukin-1 receptor type I (IL-1RI) gene were evaluated: PstI, due to a C-->T transition in exon 1B and BsrBI a C-->A transition at position 52 in exon 1C. Polymorphisms were detected by polymerase chain reaction (PCR) followed by restriction fragment length polymorphism analysis (RFLP) resolved on 3% agarose gels stained with ethidium bromide. Genotypes for PstI polymorphisms did not differ significantly among control and endometriosis (P = 0.058). However, in relation to BsrBI polymorphism, protective risk was observed for the development of endometriosis [OR 0.39-IC 95% (0.2-0.9)]. BsrBI heterozygote genotype (C/A) showed protective effect against endometriosis development.

MeSH terms

  • 5' Untranslated Regions
  • Adult
  • Aged
  • Case-Control Studies
  • Endometriosis / genetics*
  • Endometriosis / physiopathology
  • Exons
  • Female
  • Genetic Predisposition to Disease
  • Genotype
  • Humans
  • Middle Aged
  • Polymerase Chain Reaction
  • Polymorphism, Genetic
  • Polymorphism, Restriction Fragment Length
  • Receptors, Interleukin-1 / genetics*
  • Receptors, Interleukin-1 Type I

Substances

  • 5' Untranslated Regions
  • IL1R1 protein, human
  • Receptors, Interleukin-1
  • Receptors, Interleukin-1 Type I