亚甲基四氢叶酸还原酶的rs1801133位点与肺部多发实性小结节显著相关

The rs1801133 locus of MTHFR was significantly associated with multiple solid small nodules in the lung

目的了解肺部多发实性小结节与肺癌易感基因单核苷酸多态性位点(single nucleotide polymorphism,SNP)的关系,探索肺部早期病变的风险标志物。方法2017年6月至2018年10月通过社区健康服务中心招募40~74岁深圳市常住居民入院接受肺部低剂量螺旋计算机断层扫描检查,选取有肺部多发性小结节人群为病例组(n=175),无肺部病灶者为对照组(n=187),分别检测14个与肺癌易感性相关的SNP,分析SNP在两组人群间的分布及其与肺部多发实性小结节的关联。结果基因分型结果显示,只有亚甲基四氢叶酸还原酶(methylenetetrahydrofolate reductase,MTHFR)基因的rs1801133位点在病例和对照组之间基因型频率分布存在显著差异(P=0.027),其中携带AA基因型人群比携带GG基因型的人群发生肺部多发实性小结节的风险低(OR=0.45,95%CI:0.23~0.57,P=0.017),且多发性小结节发生风险呈现递减趋势(P_(趋势)=0.008);此外,显性模型分析结果表明,携带AA+AG基因型的人群比携带GG基因型的人群发生肺部多发实性小结节的风险低(OR=0.59,95%CI:0.39~0.90,P=0.014)。结论MTHFR基因rs1801133位点与肺部多发实性小结节显著相关。

Objective To understand the relationship between multiple solid small nodules in the lung and the single nucleotide polymorphism loci(SNP)of lung cancer susceptibility genes.Exploring risk markers for early-stage lung cancer.Method Urban residents aged 40-74 were recruited to undergo low-dose spiral computed tomography of the lungs from June 2017 to October 2018.The population with multiple pulmonary small nodules was selected as the positive group,and the patients without pulmonary lesions were selected as the negative control group.There were 14 SNPs loci associated with lung cancer susceptibility were detected separately.The distribution of SNPs between the two groups and their association with multiple solid small nodules in the lungs were analyzed.Result The genotyping results showed that only the rs1801133 locus of the methylenetetrahydrofolate reductase(MTHFR)gene was significantly different in the genotype frequency distribution between cases and controls(P=0.027).The risk of multiple solid small nodules in the lungs was lower in those with AA genotype than those with GG genotype(OR=0.45,95%C I:0.23-0.57,P=0.017).And the risk of multiple small nodules showed a decreasing trend(P_(trend)=0.008).In addition,the results of the dominant model analysis showed that the population carrying the AA+AG genotype had a lower risk of developing multiple solid small nodules in the lung than the population carrying the GG genotype(O R=0.59,95%C I:0.39-0.90,P=0.014).Conclusion We found that MTH F R rs1801133 was significantly associated with multiple solid small pulmonary nodules.