Arg–Arg haplotype of gene is susceptible to lung cancer in the Han population

Abstract

Objective: Lung cancer is still one of the most frequently diagnosed cancers all over the world, especially in developing countries. The aim of this study was to investigate the relationship between two well-characterized non-synonymous polymorphisms (Arg194Trp and Arg399Gln) in X-ray repair cross-complementing group 1 ( XRCC1 ) gene and the risk of lung carcinoma in the Han population. Methods: This study was hospital-based in design and included 159 participants (63 patients with lung carcinoma and 96 cancer-free controls) of Chinese Han descent. Genomic DNA from blood samples was extracted for PCR studies, followed by direct sequencing to determine the variants of the XRCC1 gene. Results: Carriers with Arg 194 –Arg 399 haplotype of XRCC1 gene conferred a 189.3% increased risk compared to the non-carriers (95% confidence interval [CI], 1.195–2.998; P = 0.006). And single-locus analysis (both allele and genotype distributions of polymorphism Arg194Trp and Arg399Gln) identified neither association with cancer risk nor with clinico-pathological parameters of lung carcinoma in the Han population. Conclusions: Arg 194 –Arg 399 haplotype of XRCC1 gene might increase lung cancer susceptibility and serve as a risk factor for lung cancer in the Han population.