Polymorphisms in Exons 1B and 1C of the Type I Interleukin-1 Receptor Gene in Patients with Endometriosis

Problem To study possible correlation between the prevalence of polymorphisms in the type I interleukin‐1 receptor gene and pelvic endometriosis. Method of study 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. Results 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)]. Conclusions BsrBI heterozygote genotype (C/A) showed protective effect against endometriosis development.