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CC BY 4.0 · Rev Bras Ginecol Obstet 2018; 40(08): 450-457
DOI: 10.1055/s-0038-1667183
Original Article
Thieme Revinter Publicações Ltda Rio de Janeiro, Brazil

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)
Cristina Wide Pissetti
1   Department of Obstetrics and Ginecology, Universidade Federal da Paraíba, João Pessoa, PB, Brazil
,
Sarah Cristina Sato Vaz Tanaka
2   Department of Patology, Genetics and Evolution, Universidade Federal do Triângulo Mineiro, Uberaba, MG, Brazil
,
Andrezza Cristina Cancian Hortolani
2   Department of Patology, Genetics and Evolution, Universidade Federal do Triângulo Mineiro, Uberaba, MG, Brazil
,
Alessandra Bernadete Trovó de Marqui
2   Department of Patology, Genetics and Evolution, Universidade Federal do Triângulo Mineiro, Uberaba, MG, Brazil
› Author Affiliations
Further Information

Publication History

17 May 2018

28 May 2018

Publication Date:
23 July 2018 (online)

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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 difference was found in co-dominant and dominant models. 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

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.

Keywords

endometriosis - apoptosis - genetic polymorphism - real-time polymerase chain reaction - genetic predisposition to disease

Palavras-chave

endometriose - apoptose - polimorfismo genético - reação em cadeia da polimerase em tempo real - predisposição genética para doença

Contributions

Cristina Wide Pissetti: conceptualization; formal analysis; funding acquisition; writing of the original draft; writing of the review and editing. Sarah Cristina Sato Vaz Tanaka: formal analysis; methodology; writing of the original draft. Andrezza Cristina Cancian Hortolani: methodology; writing of the original draft. Alessandra Bernadete Trovó de Marqui: conceptualization; formal analysis; writing of the original draft; writing of the review and editing.


 

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