目的:探究整合素αV ( integrin αV , ITGAV )基因3’ UT R 区的单核苷酸多态位点( single nucleotide polymorphism, SNP) rs11902171(G/C)与中国人群肺癌遗传易感性的关系。方法:采用病例-对照研究设计,随机选取481例肺癌患者和560例健康人群对照,收集外周血样本后抽提基因组DNA,用高分辨率熔解曲线(high resolution melting, HRM)方法对rs11902171(G/C)位点进行基因分型,采用SPSS 19.0软件对分型数据进行统计分析。结果:rs11902171位点分型后得到GG和GC两种基因型。在对照组中的分布频率分别为GG基因型89.8%、GC基因型10.2%,在病例组中的分布频率分别为GG基因型80.2%、GC基因型19.8%,两组间的基因型分布频率差异有统计学意义(P<0.001),且GC基因型相对于GG基因型能显著增加中国人群的肺癌遗传易感性(OR=2.18,95%CI:1.53~3.12)。根据吸烟及饮酒等因素分层分析显示,GC基因型除了饮酒组外,在其他组(>或≤60岁年龄组;男性或女性组;非饮酒组;吸烟或非吸烟组)均能显著增加肺癌易感性(均P<0.05)。结论:ITGAV基因的SNP位点rs11902171(G/C)与中国人群肺癌遗传易感性具有显著的相关性。
Objective:To investigate the association of single nucleotide polymorphism(SNP) locus rs11902171(G/C) locatedin the 3’ untranslated region of integrin αV(ITGAV) gene with the susceptibility of Chinese lung cancer. Methods:A case-control study was performed between 481 cases of lung cancer patients and 560 healthy control subjects selected randomly. Genomic DNA was extracted from these collected peripheral blood samples. The locus of rs11902171 (G/C) was genotyped by high resolution melting ( HRM ) method , and the genotyping data was analysed by SPSS 19 . 0 software . Results: Only two genotypes, GG and GC, were obtained of the locus of rs11902171(G/C) in this study. The distribution frequencies of GG and GC was 89.8%and 10.2%respectively in the case group. In the control group,the distribution frequencies of GG and GC was 80.2% and 19.8% respectively. The distribution of genotype have significant difference between lung cancer patients and healthy controls(P<0.001). GC genotype significantly increased the susceptibility of lung cancer in Chinese people(OR=2.18, 95%CI: 1.53-3.12). GC genotype was significantly increased susceptibility of lung cancerin the age >or≤60 years group, male or female group, non-drinking group and smoking or non-smoking group(except for alcohol group) was found by stratific-ation analysis according to smoking and drinking and other factors(P<0.05). Conclusion: The present date suggest that the SNP locus of rs11902171(G/C) in ITGAV gene was associated with the susceptibility of lung cancer in Chinese population.