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

Authors

  • Paulo D'Amora,

    1. Molecular Gynecology Laboratory, Gynecology Department, Federal University of São Paulo – Escola Paulista de Medicina, São Paulo, Brazil
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  • Hélio Sato,

    1. Pelvic Pain and Endometriosis’ Unit, Gynecology Department, Federal University of São Paulo – Escola Paulista de Medicina, São Paulo, Brazil
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  • Manoel JBC Girão,

    1. Pelvic Pain and Endometriosis’ Unit, Gynecology Department, Federal University of São Paulo – Escola Paulista de Medicina, São Paulo, Brazil
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  • Ismael DCG Silva,

    1. Molecular Gynecology Laboratory, Gynecology Department, Federal University of São Paulo – Escola Paulista de Medicina, São Paulo, Brazil
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  • Eduardo Schor

    1. Pelvic Pain and Endometriosis’ Unit, Gynecology Department, Federal University of São Paulo – Escola Paulista de Medicina, São Paulo, Brazil
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Paulo D'Amora, MSc., Molecular Gynecology Laboratory, Gynecology Department, Federal University of São Paulo, Rua Pedro de Toledo, 781 4thfloor 04039–001, São Paulo, SP, Brazil
E-mail: paulo.toco@epm.br

Abstract

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.

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