title: Polymorphisms in exons 1B and 1C of the type I interleukin-1 receptor gene in patients with endometriosis.
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.
authors.affiliation: Molecular Gynecology Laboratory, Gynecology Department, Federal University of São Paulo, Escola Paulista de Medicina, São Paulo, Brazil. paulo.toco@epm.br
authors.forename: Paulo
authors.initials: P
authors.lastname: D'Amora
authors.forename: Hélio
authors.initials: H
authors.lastname: Sato
authors.forename: Manoel J B C
authors.initials: MJ
authors.lastname: Girão
authors.forename: Ismael D C G
authors.initials: ID
authors.lastname: Silva
authors.forename: Eduardo
authors.initials: E
authors.lastname: Schor
mesh_terms: D020121:5' Untranslated Regions; D000328:Adult; D000368:Aged; D016022:Case-Control Studies; D004715:Endometriosis / Q000235:genetics* / Q000503:physiopathology; D005091:Exons; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008875:Middle Aged; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length; D017472:Receptors, Interleukin-1 / Q000235:genetics*; D053573:Receptors, Interleukin-1 Type I
chemical_list: D020121:5' Untranslated Regions; C508590:IL1R1 protein, human; D017472:Receptors, Interleukin-1; D053573:Receptors, Interleukin-1 Type I