XPD Lys751Gln GENETIC POLYMORPHISM AND LUNG CANCER RISK IN A CHINESE POPULATION

摘要

To investigate the XPD Lys751Gln genetic polymorphism related to lung cancer susceptibility in a Chinese population, a 1 : 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 X2 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.