Genetic polymorphisms in DNA repair genes may influence individual variations in the DNA repair capacity. Polymorphisms in the XRCC1 gene that cause amino acid substitutions may impair the interaction of its proteins (XRCC1) with the other enzymatic proteins and consequently alter DNA repair function, which may be associated with the risk of HIV-1/AIDS disease. In this study, we aimed to determine the frequency of polymorphisms in XRCC1 codon 399 in a sample of Indian population with HIV-1/AIDS to evaluate its association with the disease. Polymerase chain reaction and restriction fragment length polymorphism were used to analyse XRCC1 Arg399Gln polymorphisms in 300 positively diagnosed cases with HIV-1/AIDS and an equal number of negatively diagnosed controls of the matched age. The XRCC1 homozygous variant genotype Gln399Gln was associated with an increased risk of HIV-1/AIDS disease (OR = 1.8, 95% CI 1.10-2.94), while no association was found with the Arg399Gln genotype. Polymorphisms in the XRCC1 homozygous variant genotype for the 399Gln allele were associated with the risk of HIV-1/AIDS disease in a sample of North Indian population.

Department of Biotechnology Panjab University Chandigarh India

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