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

Paulo D'Amora, Paulo D’Amora, Sato H, Hélio Sato, Girão Mj, Manoel J B C Girão, Manoel JBC Girão, Silva ID, Ismael D C G Silva, Schor E, Eduardo Schor
American journal of reproductive immunology (New York, N.Y. : 1989) · 2006 · vol. 56(3) , pp. 178–184 · doi:10.1111/j.1600-0897.2006.00415.x · PMID:16911713 · W2035112927
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This study investigated IL-1RI gene polymorphisms in endometriosis patients, finding the BsrBI heterozygote genotype (C/A) was associated with a protective effect against the disease.

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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.

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Condition tags

endometriosis

MeSH descriptors

Endometriosis Receptors, Interleukin-1 5' Untranslated Regions 5' Untranslated Regions Adult Adult Aged Aged Case-Control Studies Case-Control Studies Endometriosis Endometriosis Endometriosis Exons Exons Female Female Genetic Predisposition to Disease Genetic Predisposition to Disease Genotype

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