Association Between XRCC1 and WRN as Genetic Markers of Stability and Susceptibility to Cancer in Patients with HIV/AIDS and Cancer: a Cross-Sectional Study

Document Type : Research Articles


1 Department of Infectious and Parasitic Diseases, faculty Faculty of Medical Sciences, Rio de Janeiro State University, RJ, Brazil

2 Postgraduate Program in Medical Sciences, Rio de Janeiro State University, RJ, Brazil

3 Department of Pathology and Laboratory, Faculty of Medical Sciences, Rio de Janeiro State University, RJ, Brazil


Background: HIV-induced immunodeficiency has been implicated as a key factor for risk of cancer. Neoplasia is considered to result from accumulation of damage to the genome. Polymorphisms in repair genes, such as the XRCC1 and WRN, have been associated with susceptibility to development of cancer in patients with HIV/AIDS. The aim of this study was to analyze the frequency of polymorphisms in XRCC1 (Arg399Gln) and WRN (Cys1367Arg) in patients with HIV/AIDS with or without cancer. Materials and Methods: Genotyping for analysis of polymorphisms was carried out by PCR (Polymerase Chain Reaction) and RFLP (Restriction Fragment Length Polymorphism). Results: In the genotypic and allelic analysis, no increased risk of cancer was observed with any genotype or allele of XRCC1 (Arg399Gln) singly (prevalence ratio 2.82; p-value= 0.24). However, with the WRN (Cys1367Arg) gene, the heterozygous genotype and arginine allele were associated with increased risk (prevalence ratio= 25.62; p-value= 0.0001). Correlation analysis showed no association between gender and the risk (male p-value= 0.639 and women p-value> 1); however, a positive association for the increased risk of cancer was shown with XRCC1 (Arg399Arg) wild-type homozygous and WRN (Cys1367Arg) heterozygous (p-value< 0.001), with heterozygous XRCC1 (Arg399Gln) and WRN (Cys1367Arg) (p-value< 0.001), and with 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. However, there is a high risk in patients with HIV/AIDS who have the heterozygous genotype and the arginine allele in the WRN (Cys1367Arg) gene singly. Those with WRN (Cys1367Arg) heterozygote genotype showed a high risk of cancer with all genotypes of the XRCC1 (Arg399Gln) gene.


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