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DOI: 10.1055/s-0044-1792180
Polymorphie DNA repair genes XRCC1 and XRCC3 and the risk for cervical cancer in Brazilian patients
Polimorfismos nos genes de reparo do DNA XRCC1 e XRCC3 e o risco para o câncer cervical uterino em pacientes brasileirasThis work was funded by grants from Fundação Carmem Prudente and Hospital do Câncer Alfredo Abrão, Campo Grande, Mato Grosso do Sul State, Brazil.
ABSTRACT
Background: DNA repair genes play a key role in maintaining genomic stability and integrity. DNA repair gene polymorphisms, such as X-ray repair cross-complementing group 1 and 3 genes (XRCC1 and XRCC3), are implicated to contribute to carcinogenesis.
Objective: In this study, we investigated the correlation between cervical cancer risk and XRCC1 (Arg-l94Trp and Arg399Gln) and XRCC3 (Thr24IMet) genetic variants.
Methods: A case-control study of 77 cases of cervical cancer (including 70 carcinoma and 7 adenocarcinoma) and 73 normal women was performed. Three single nucleotide polymorphisms (SNPs) (XRCC1, and XRCC3) were genotyped by polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP).
Results: Genotype frequencies of were similar between cases and controls: (XRCC1 - Arg194Trp [C-T]): CC 60(77.9%), CT 16(20.8%) e TT 1(1.3%) in cases and CC 57(78,1%), CT 16(21,9%) e TT 0(0%) in controls (p=1.00); (XRCC1 - Arg399Gln [G-A]): GG 13(16.9%), GA 28(36.4%) e AA 36(46.8%) in cases and GG 10(13,7%), GA 47(64,4%), AA 16(21,9%) in controls (p=0.01); (XRCC3 - Thr241Met [C-T]): CC 43(55,8%), CT 28(36,4%), TT 6(7,8%) in cases and CC 36(48,6%), CT 30(41,7%), TT 7(9,7%) in controls, (p=0.74). We found association XRCC1(Arg399Gln) and the risk for cervical cancer as a protective factor [OR = 0.20; IC=0.05-0.73, p=0.02] and found no association between XRCC1 (Arg194Trp) and XRCC3 (Thr241Met) polymorphisms and the risk of cervical cancer in our study.
Conclusion: Our results showed that there was positive correlation between the genetic variation Arg399Gln in XRCC1 gene and the susceptibility to cervical carcinoma in the studied population.
RESUMO
Introdução: Genes de reparo do DNA desempenham papel fundamental na manutenção da estabilidade e integridade genômicas. Polimorfismos em genes de reparo de DNA da família de genes X-ray repair cross-complementing grupos 1 e 3 (XRCC1 e XRCC3), são implicados no processo de carcinogênese.
Objetivo: Neste estudo, investigamos a correlação entre o risco para o surgimento de câncer cervical e a prevalência das variantes genéticas XRCC1 (Argl94Trp e Arg399Gln) e XRCC3 (Thr24IMet).
Métodos: Foi realizado um estudo caso-controle de 77 casos de câncer cervical (incluindo 70 carcinomas e 7 adenocarcinomas) e 73 mulheres saudáveis. Três polimorfismos de nucleotídeo único (SNPs) (XRCC1 e XRCC3) foram estudados pela técnica de polimerização em cadeia da polimerase com análise do polimorfismo do comprimento do fragmento de restrição (PCR-RFLP).
Resultados: As frequências dos genótipos foram semelhantes entre os casos e controles: CC (77,9%), CT 16 (20,8%) e TT 1 (1,3%) nos casos e CC 57 (78,1 %), CT 16 (21,9%) e TT 0 (0%) nos controles (p = 1,00); (36,8%) e AA 36 (46,8%) nos casos e GG 10 (13,7%), GA 47 (64,4%) e GG 13 (16,9% AA 16 (21,9%) nos controles (p = 0,01); (XRCC3 - Thr241Met [CT]): CC 43 (55,8%), CT 28 (36,4%), TT 6 (7,8%) nos casos e CC 36 (48,6%), CT 30 41,7%), TT 7 (9,7%) nos controles, (p = 0,74). A associação do genótipo XRCC1 (Arg399Gln) representa fator protetor para o desenvolvimento do câncer cervical [OR = 0,20; IC = 0,05-0,73, p = 0,02]. Não foi observada associação entre os polimorfismos XRCC1 (Arg194Trp) e XRCC3 (Thr241Met) e o risco para desenvolvimento do câncer cervical em nosso estudo.
Conclusão: Os resultados mostraram que houve correlação positiva entre a prevalência da variação genética Arg399Gln presente no gene XRCC1 e a menor suscetibilidade para o desenvolvimento de carcinoma cervical na população estudada.
Publikationsverlauf
Eingereicht: 19. Januar 2017
Angenommen: 25. Januar 2017
Artikel online veröffentlicht:
25. Februar 2025
© 2017. The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution 4.0 International License, permitting copying and reproduction so long as the original work is given appropriate credit (https://creativecommons.org/licenses/by/4.0/)
Thieme Revinter Publicações Ltda.
Rua do Matoso 170, Rio de Janeiro, RJ, CEP 20270-135, Brazil
Fabricio Colacino-Silva, João Paulo Ferreira de Oliveira Kleine, Márcia Batista Salzgeber, Rodrigo de Aquino Castro, Manoel João Batista Castello Girão, Ismael Dale Cotrim Guerreiro da Silva, Paulo D’Amora. Polymorphie DNA repair genes XRCC1 and XRCC3 and the risk for cervical cancer in Brazilian patients. Brazilian Journal of Oncology 2017; 13: e-1792180.
DOI: 10.1055/s-0044-1792180
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