摘要
目的:研究DNA修复基因RAD51和着色性干皮病基因(ERCC2/XPD)以及Bcl-2结合抗凋亡基因1(Bcl-2 associated athanogene 1,BAG-1)基因多态性与非小细胞肺癌(non-small cell lung cancer,NSCLC)遗传易感性的关系。方法:采用病例对照研究设计,选取100例非小细胞肺癌病例和80例正常对照。以ERCC2/XPD Lys751Gln和RAD51 codon 135以及BAG-1codon 324基因多态性为研究位点,聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法对多态性进行检测。应用Logistic回归计算OR值及95%CI,比较不同基因型与NSCLC发病风险的关系。结果:ERCC2/XPD 751基因型在病例组的分布频率为C/C型69例(69%)、C/A型26例(30%)和A/A型5例(5%)。与野生基因型C/C型相比,携带ERCC2/XPD C/A基因型和A/A基因型者患NSCLC的危险度比值比(odds ratio,OR)分别是1.53(95%CI:1.15-3.32)和0.58(95%CI:0.15-2.39)。BAG-1 codon 324基因型的分布频率为C/C型81%(81/100)、C/T型19%(19/100)以及T/T型0%(0例)。与野生基因型C/C型相比,携带BAG-1 C/T基因型者患NSCLC的OR是1.28(95%CI:1.08-2.74)。RAD51 codon 135基因型的分布频率为G/G型67%(67/100)、G/C型33%(33/100)、未现C/C型。与野生基因型G/G型相比,RAD51 G/C基因型者患NSCLC的OR是1.03(95%CI:1.06-2.29)。分析结果提示吸烟、环境危险因素与XPD Lys751Gln基因多态存在交互作用,交互效应OR值分别为2.24(95%CI:1.18-2.87)和2.53(95%CI:1.71-3.46),携带XPD Ly s751Gln突变基因者若同时暴露于吸烟、环境危险因素下,则患NSCLC的危险显著增加,相较未暴露于上述因素者,OR值均增大。结论:BAG-1和ERCC2/XPD以及RAD51基因多态性可能与当地居民NSCLC遗传易感性有关,ERCC2/XPD与吸烟、饮酒、环境危险因素存在交互作用。
Objective：To study the relationship between Bcl-2 associated athanogene 1（ BAG-1 ）,xeroderma pigmentosum group D（ ERCC2/XPD）and DNA repair gene RAD51 polymorphism and genetic susceptibility to non-small cell lung cancer（ NSCLC ）. Methods：A case - control study among 100 NSCLC cases and 80 controls matched by age and gender was conducted. The polymerase chain reaction-restriction fragment length polymorphism （ PCR-RFLP）was used to analyze the genetic polymorphisms. Logistic regression model was employed to calculate the odd ratios（ ORs）and 95% confidence intervals（ CIs）of ERCC2/XPD Lys751Gln,BAG -1 codon 324 and RAD51 codon 135 with susceptibility of NSCLC. Results：The allele frequencies of C/C,C/A,and A/A of ERCC2/XPD 751Gln were 69%（69/100）,26%（26/100）and 5%（5/100）in cases,respectively. The odds ratios for individ-uals carrying ERCC2/XPD C/A,and A/A were 1. 53（95% CI：1. 15-3. 32）and 0. 58（95% CI：0. 15-2. 39）. The allele frequencies of C/C,C/T and T/T of BAG-1 codon 324 were 81%（81/100）,19%（19/100）and 0%（0/100） in cases,respectively. The odds ratios for individuals carrying BAG-1 C/T was 1. 28（95% CI：1. 08-2. 74）. The odds ratios for individuals carrying RAD51 G/C was 1. 03（95% CI：1. 06-2. 29）. A significant interaction was found between ERCC2/XPD Lys751Gln polymorphism and smoking and air pollution in NSCLC. Conclusion：Genetic poly-morphism of ERCC2/XPD C/A,BAG-1 codon 324 C/T and RAD51 codon 135 G/C may be associated with the ge-netic susceptibility to NSCLC.
出处
《现代肿瘤医学》
CAS
2015年第1期62-65,共4页
Journal of Modern Oncology
基金
南通市科技计划项目(编号:BK2012082)
