Results
| PMID | 16911713 |
| Gene Name | IL1R1 |
| Condition | Endometriosis |
| Association |
Associated |
| Mutation | IL-1RI (PstI, due to a C-->T transition in exon 1B and BsrBI a C-->A transition at position 52 in exon 1C) |
| Population size | 223 |
| Population details | 223 (109 women with surgically and histologically confirmed endometriosis, 114 healthy women) |
| Sex | Female |
| Associated genes | IL-1RI |
| Other associated phenotypes |
Endometriosis |
|
Am J Reprod Immunol. 2006 Sep;56(3):178-84. D'Amora, Paulo| Sato, Helio| Girao, Manoel J B C| Silva, Ismael D C G| Schor, Eduardo Molecular Gynecology Laboratory, Gynecology Department, Federal University of Sao Paulo, Escola Paulista de Medicina, Sao Paulo, Brazil. paulo.toco@epm.br 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/physiopathology| Exons| Female| Genetic Predisposition to Disease| Genotype| Humans| Middle Aged| Polymerase Chain Reaction| Polymorphism, Genetic| Polymorphi |
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