DNA repair gene polymorphisms at XRCC1, XRCC3, XPD, and OGG1 loci in Maharashtrian population of central India

Reduction in DNA repair capacity is associated with increased rates of birth defects, cancer, and accelerated ageing. Genetic polymorphisms in DNA repair genes might influence the repair activities of the enzymes predisposing individuals to cancer risk. Owing to the presence of these genetic variants, inter-individual and ethnic differences in DNA repair capacity have been observed in various populations. India harbors enormous genetic, cultural and linguistic diversity. The present study was undertaken to determine the allele and genotype frequencies of four non-synonymous SNPs, XRCC1 Arg399Gln (C > T, rs25487), XRCC3 Thr241Met (G > A, rs861539), XPD Lys751Gln (T > G, rs13181), and OGG1 Ser326Cys (C > G, rs1052133) in the Maharashtrian population, residing in the Vidarbha region of central India and to compare them with HapMap and other Indian populations. The variant alleles of these polymorphisms have been found to be positively associated with different forms of cancer in several genetic epidemiological studies. The basic prevalence of these polymorphisms in the general population must be known to evaluate their significance in risk assessment in cancer and other phenotypes. About 215 healthy and unrelated individuals from the Maharashtrian population were genotyped for each of these four polymorphisms using PCR-RFLP. The allele and genotype frequency distribution at the four DNA repair gene loci among Maharashtrians revealed a characteristic pattern. To the best of our knowledge, this is the first report of these DNA repair gene polymorphisms in a central Indian population.