XRCC1 Arg194Trp polymorphism is no risk factor for skin cancer development in Kashmiri population

Background: Recently, three coding polymorphisms in X-ray cross complementing gene 1 (XRCC1) have been identified; with probable effect on DNA repair capacity and thus modulation of cancer susceptibility. Moreover, association of these polymorphisms with the cancer risk are reported to be population dependent. Therefore, in this case control study we aimed to investigate the polymorphism at codon 194 (Arg to Trp) in XRCC1 gene and the possible association of its polymorphic genotypes with skin cancer in the ethnically different population of Kashmir. Aim: To study if there is any possible association of Arg194Trp XRCC1 polymorphism with risk of developing skin cancer in ethnically different Kashmir population. Subjects and methods: For this study 68 skin cancer patients and 60 healthy controls, matched for age and gender were recruited. PCR-RFLP followed by statistical analysis was employed to check for the C194T polymorphism and its possible association with the skin cancer risk in the population. Result: An insignificant association among skin cancer patients with respect to the wild (Arg/Arg) versus variant (Trp/Trp) genotypes (OR = 0.34, 95% CI = 0.10–1.05, p = 0.06) was observed. However, individually homozygous and heterozygous variant alleles were observed to be associated with risk of developing skin cancer. As far as, individual allelic ratio among cases and controls is concerned Trp allele of codon194 showed a remarkably high frequency in cases (67.7% vs. 32.3%) in comparison with controls (OR = 1.94, 95% CI = 1.22–3.0, p = 0.004). Discussion: These findings suggest that the combined homozygous and heterozygous variants of each codon and the 194Trp allele are associated with the disease, however when genotypes were compared individually, the association turned out to be insignificant. Keywords: Skin cancer, X-ray cross complementing 1 gene (XRCC1), Single nucleotide polymorphism (SNP), Kashmi