XPD Lys751Gln genetic polymorphism and lung cancer risk in a Chinese population

To investigate the XPD Lys751Gln genetic polymorphism related to lung cancer susceptibility in a Chinese population, a I : 1 matched case-control study was performed in which 200 hospital controls were matched to the 200 original lung cancer cases. The Lys751Gln polymorphism. of XPD gene was analyzed by di-allele-specific-amplification with artificially modified primer (diASA-AMP) method. To validate the accuracy of genotype scoring by diASAAMP method, 115 samples were genotyped using the traditional polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP) analysis. The results show that a significant association between the XPD Lys751Gln mutation and lung cancer risk, seen by comparing the Lys/Gln+Gln/Gln with Lys/Lys genotype (OR = 3.32, 95% CI= 1.85-5.96). After stratifying according the smoking status, no significant gene-smoking interaction was observed. Results of genotyping using diASA-AMP and PCR-RFLP showed a consistency rate of 96.5% and a stronger correlativity and consistency by the chi(2) test (Kappa = 0.90, 95% CI 0.81-1.00). This study suggests that XPD Lys751Gln genetic polymorphism might play an important role in susceptibility of lung cancer in the Chinese population. The diASA-AMP method was accurate and reliable and could serve as a rapid detection of the gene polymorphisms related to tumor susceptibility in a population.