Associação entre os genes XRCC1 e WRN como marcadores de estabilidade genética e susceptibilidade ao câncer em pacientes com HIV/AIDS

• Autor(a) principal: Maldonado, Gabriel de Carvalho
• Data de Publicação: 2016
• Tipo de documento: Dissertação
• Idioma: por
• Título da fonte: Biblioteca Digital de Teses e Dissertações da UERJ
• Texto Completo: http://www.bdtd.uerj.br/handle/1/8811
• topic: HIV/AIDS; Cancer; Polymorphisms; XRCC1; WRN; HIV/AIDS; Câncer; Polimorfismos; XRCC1; WRN; AIDS (Doença); HIV (Vírus); Síndrome de imunodeficiência adquirida; Câncer; Polimorfismo (Genética); CNPQ::CIENCIAS DA SAUDE::MEDICINA

HIV-induced immunodeficiency has been implicated as a key factor to the high risk of cancer. For the development of cancer it, is necessary to have accumulations of damage to the genome. Some polymorphisms in repair genes, such as the XRCC1 and WRN genes, have been associated with susceptibility to developing cancer in patients with HIV/AIDS. The aim of this study was to analyze the frequency of polymorphisms in the genes XRCC1 (Arg399Gln) and WRN (Cys1367Arg) in patients with HIV/AIDS and in patients with HIV/AIDS with cancer. Genotyping for analysis of polymorphisms was carried out by PCR (Polymerase Chain Reaction) and RFLP (Restriction Fragment Length Polymorphism). In the genotypic and allelic analysis, no increased risk of cancer was observed in any genotype or allele of the gene XRCC1 (Arg399Gln) singly (prevalence ratio 2.82; p-value= 0.24). Nevertheless, in the WRN (Cys1367Arg) gene, the heterozygous genotype and arginine allele showed an increased risk of cancer (prevalence ratio= 25.62; p-value= 0.0001). Correlation analysis showed no association between gender and the risk of cancer, male (p-value= 0.639) and women (p-value> 1); however, a positive association for the increased risk of cancer was shown among the XRCC1 (Arg399Arg) genotypes wild-type homozygous and heterozygous WRN (Cys1367Arg) (p-value< 0.001), heterozygous XRCC1 (Arg399Gln) and WRN (Cys1367Arg) (p-value< 0.001), variant homozygous XRCC1 (Gln399Gln) and Heterozygous WRN (Cys1367Arg) (p-value< 0.001).Conclusions: There is no increased risk of cancer in patients who are HIV/AIDS carriers of the XRCC1 (Arg399Gln) gene singly. There is a high risk of cancer in patients with HIV/AIDS who have the heterozygous genotype and the arginine allele in the WRN (Cys1367Arg) gene singly. Patients with HIV/AIDS and genotype heterozygote in the WRN (Cys1367Arg) gene showed a high risk of cancer when it is associated with all genotypes of the XRCC1 (Arg399Gln) gene.