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Gene Polymorphisms in FAS (Rs3740286 and Rs4064) Are Involved in Endometriosis Development in Brazilian Women, but not those in CASP8 (rs13416436 and rs2037815) / Polimorfismos do gene FAS (rs3740286 e rs4064) estão envolvidos no desenvolvimento de endometriose em mulheres brasileiras, mas não os no CASP8 (rs13416436 e rs2037815)
Pissetti, Cristina Wide; Tanaka, Sarah Cristina Sato Vaz; Hortolani, Andrezza Cristina Cancian; Marqui, Alessandra Bernadete Trovó de.
  • Pissetti, Cristina Wide; Universidade Federal da Paraíba. Department of Obstetrics and Ginecology. João Pessoa. BR
  • Tanaka, Sarah Cristina Sato Vaz; Universidade Federal do Triângulo Mineiro. Department of Patology, Genetics and Evolution. Uberaba. BR
  • Hortolani, Andrezza Cristina Cancian; Universidade Federal do Triângulo Mineiro. Department of Patology, Genetics and Evolution. Uberaba. BR
  • Marqui, Alessandra Bernadete Trovó de; Universidade Federal do Triângulo Mineiro. Department of Patology, Genetics and Evolution. Uberaba. BR
Rev. bras. ginecol. obstet ; 40(8): 450-457, Aug. 2018. tab
Article in English | LILACS | ID: biblio-959031
ABSTRACT
Abstract Objective The present study aims to investigate the association between caspase-8 (CASP8) (rs13416436 and rs2037815) and Fas cell surface death receptor (FAS) (rs3740286 and rs4064) polymorphisms with endometriosis in Brazilian women. Methods In the present case-control study, 45 women with a diagnosis of endometriosis and 78 normal healthy women as a control group were included. The genotyping was determined by real-time polymerase chain reaction (PCR) with Taqman hydrolysis probes (Thermo Fisher Scientific, Darmstadt, Germany). Genotypic and allelic frequencies were analyzed using Chi-squared (χ2) test. In order to determine the inheritance models and haplotypes ,SNPStats (Institut Català d'Oncologia, Barcelona, Spain) was used. Levels of 5% (p = 0.05) were considered statistically significant. Results No significant difference was observed in genotypic or allelic frequencies between control and endometriosis groups for rs13416436 and rs2037815 (CASP8 gene). On the other hand, a significant difference between rs3740286 and rs4064 (FAS gene) was found. Regarding polymorphisms in the FAS gene, a statistically significant differencewas found in co-dominant and dominantmodels. Only the haplotype containing the rs3740286A and rs4064G alleles in the FAS gene were statistically significant. Conclusion The polymorphisms in the CASP8 gene were not associated with endometriosis. The results indicate an association between FAS gene polymorphisms and the risk of developing endometriosis.
RESUMO
Resumo Objetivo Investigar a associação entre os polimorfismos dos genes caspase-8 (CASP8) (rs13416436 e rs2037815) e FAS (rs3740286 e rs4064) em mulheres brasileiras com endometriose. Métodos Trata-se de um estudo do tipo caso-controle, no qual foram incluídas 45 mulheres com diagnóstico de endometriose e 78 controles. A genotipagem das amostras foi determinada usando a reação em cadeia de polimerase em tempo real com sondas de hidrólise TaqMan (Thermo Fisher Scientific, Darmstadt, Germany). As frequências genotípicas e alélicas foram analisadas usando o teste do qui-quadrado. O SNPStats (Institut Català d'Oncologia, Barcelona, Espanha) foi usado para determinar os modelos de herança e os haplótipos. Os níveis de significância estatística considerados foram de 5% (p = 0,05). Resultados Não foi observada diferença significativa nas frequências genotípicas ou alélicas entre os grupos de controle e de endometriose para os polimorfismos rs13416436 e rs2037815 (gene CASP8). Por outro lado, foi encontrada uma diferença significativa entre os polimorfismos rs3740286 e rs4064 (gene FAS). Em relação aos polimorfismos do gene FAS, foi encontrada uma diferença estatisticamente significativa nos modelos codominante e dominante. Apenas o haplótipo contendo os alelos rs3740286A e rs4064G no gene FAS foi estatisticamente significativo. Conclusão Não há associação entre os polimorfismos do gene CASP8 e endometriose. Entretanto, há associação entre os polimorfismos do gene FAS e o risco de desenvolver endometriose.
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Full text: Available Index: LILACS (Americas) Main subject: Polymorphism, Genetic / Fas Receptor / Endometriosis / Caspase 8 Type of study: Observational study / Prognostic study / Risk factors Limits: Adult / Female / Humans Country/Region as subject: South America / Brazil Language: English Journal: Rev. bras. ginecol. obstet Journal subject: Gynecology / Obstetrics Year: 2018 Type: Article Affiliation country: Brazil Institution/Affiliation country: Universidade Federal da Paraíba/BR / Universidade Federal do Triângulo Mineiro/BR

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Full text: Available Index: LILACS (Americas) Main subject: Polymorphism, Genetic / Fas Receptor / Endometriosis / Caspase 8 Type of study: Observational study / Prognostic study / Risk factors Limits: Adult / Female / Humans Country/Region as subject: South America / Brazil Language: English Journal: Rev. bras. ginecol. obstet Journal subject: Gynecology / Obstetrics Year: 2018 Type: Article Affiliation country: Brazil Institution/Affiliation country: Universidade Federal da Paraíba/BR / Universidade Federal do Triângulo Mineiro/BR