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目的:探讨DNA修复基因聚腺苷酸二磷酸核糖转移酶(ADPRT)基因rs1136410位点多态性与苏北地区汉族人群非小细胞肺癌(NSCLC)发生的相关性。方法:选取2015年11月-2018年12月于徐州医科大学附属医院就诊的苏北地区汉族原发性NSCLC患者283例,作为NSCLC组;选择同期体检的健康者210例作为对照组。采用聚合酶链反应-限制性片段长度多态性方法检测各受试者ADPRT基因rs1136410位点的基因型
采用Logistic回归模型评价位点多态性及其与吸烟交互作用对NSCLC发生的影响。结果:两组受试者性别、年龄比较,差异均无统计学意义(P>0.05);而NSCLC组吸烟者的比例显著高于对照组(P<0.05)。共检出ADPRT基因rs1136410位点TT、TC、CC等3种基因型。其中,对照组受试者TT、TC、CC型频率分别为41.9%、44.8%、13.3%,T、C等位基因频率分别为64.3%、35.7%;NSCLC组患者TT、TC、CC型频率分别为21.6%、50.2%、28.2%,T、C等位基因频率分别为46.6%、53.4%。两组受试者各基因型频率均符合Hardy-Weinberg平衡(P>0.05),但基因型及等位基因频率的组间差异明显(P<0.05)。与TT型个体比较,TC、CC型个体发生NSCLC的风险分别增加了1.179、3.122倍[比值比(OR)分别为2.179、4.122,95%置信区间(CI)分别为(1.435,3.309)、(2.401,7.075),P<0.05]。与TT型不吸烟个体比较,TC、CC型不吸烟个体发生NSCLC的风险分别增加了0.371、1.328倍[OR分别为1.371、2.328,95%CI分别为(0.927,3.428)、(1.249,4.622),P<0.05],TC、CC吸烟个体发生NSCLC的风险分别增加了0.928、2.182倍[OR分别为1.928、3.182,95%CI分别为(1.257,2.957)、(1.760,5.754),P<0.05]。结论:ADPRT基因rs1136410位点突变是我国苏北地区汉族人群罹患NSCLC的危险因素,且吸烟可进一步增加该位点突变个体发生NSCLC的风险。
OBJECTIVE: To investigate the correlation of ADPRT rs1136410 polymorphism with the occurrence of non-small cell lung cancer (NSCLC) in Han nationality from northern Jiangsu. METHODS: A total of 283 patients with primary NSCLC of Han nationality in Northern Jiangsu were selected from the Affiliated Hospital of Xuzhou Medical University during Nov. 2015-Dec. 2018 as NSCLC group. A total of 210 healthy subjects underwent physical examination were included in control group. PCR-RFLP was utilized to determine the genotypes at ADPRT rs1136410 locus. Logistic regression model was used to evaluate the effect of polymorphism and its interaction with smoking on the occurrence of NSCLC. RESULTS: There was no statistical significance in age and gender between 2 groups (P>0.05). The proportion of smoker in NSCLC group was significantly higher than control group (P<0.05). TT, TC and CC genotypes were detected at rs1136410 locus of ADPRT gene. The frequency of TT, TC and CC genotype were 41.9%,44.8% and 13.3%, and those of allele T and C were 64.3% and 35.7% in control group. The frequency of TT, TC and CC genotype were 21.6%, 50.2% and 28.2%, and those of allele T and C were 46.6% and 53.4% in NSCLC group, respectively. The frequencies of genotypes in 2 groups were in accordance with Hardy-Weinberg equilibrium (P>0.05), while there was significant difference in genotype and allele frequencies between 2 groups (P<0.05). Compared with TT genotype, the risk of NSCLC in individuals carrying TC and CC genotypes raised by 1.179, 3.122 folds [ORTC=2.179, 95%CI (1.435, 3.309), P<0.05; ORCC=4.122,95%CI(2.401,7.075),P<0.05]. Compared with individuals carrying TT genotype, the risk of NSCLC occurrence in non-smokers carrying TC and CC genotypes increased by 0.371, 1.328 fold [ORTC=1.371,95%CI (0.927,3.428),P<0.05; ORCC=2.328,95%CI (1.249,4.622),P<0.05]; and the risk of NSCLC occurrence in smokers carrying TC and CC genotypes increased by 0.928, 2.182 folds [ORTC=1.928,95%CI (1.257,2.957), P<0.05;ORCC=3.182,95%CI (1.760,5.754), P<0.05]. CONCLUSIONS: The rs1136410 locus mutant genotype of ADPRT gene is the risk factor of NSCLC in Han nationality from Northern Jiangsu, and smoking raises this risk of NSCLC occurrence in individuals with mutation genotypes of ADPRT rs1136410.
ADPRT基因rs1136410位点单核苷酸多态性非小细胞肺癌相关性吸烟汉族苏北地区
ADPRT geners1136410Single nucleotide polymorphismnon-small cell lung cancerCorrelationSmokingHan nationalityNorthern Jiangsu
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