湖北汉族人群ALK、EGFR和ROS1基因多态性与非小细胞肺癌易感性相关分析

Polymorphisms of susceptibility genes ALK,EGFR and ROS1 in non-small cell lung cancer within Han population in Hubei province

目的通过研究非小细胞肺癌(NSCLC)的易感基因ALK,EGFR和ROS1的基因多态性,探讨两者的相关关系,为研究非小细胞肺癌的发生发展机制打下理论基础。方法收集本院2016年1月至2018年1月期间51位非小细胞肺癌患者和64名健康人外周抗凝血样本,检测ALK,EGFR和ROS1单核苷酸多态性位点的突变情况,采用显性模型通过logistic回归分析单核苷酸多态性突变与NSCLC的关系。结果与健康人群相比,NSCLC患者中ALK、EGFR和ROS1突变型比率更高,其中EGFR的阳性率明显高于健康人群(P<0.05)。ALK和EGFR的单核苷酸多态性突变显著促进了NSCLC的发生,而ROS1基因的突变对NSCLC的发生发展无明显影响。EGFR的单核苷酸多态性是NSCLC发生的危险因素(P<0.05),其中,EGFR的rs121434569位点突变的优势比最大(OR=56.00)。结论 ALK和EGFR的基因突变可以影响NSCLC的发生发展,但只有EGFR突变是NSCLC发生的危险因素,其中以EGFR的rs121434568位点突变最为危险。

Objective To study the mechanism of occurrence and development in non-small-cell Lung Carcinoma,the relationship between the polymorphism of susceptibility genes ALK,EGFR and ROS1 will be explored.Method From January 2016 to January 2018,51 patients with NSCLC were enrolled in our hospital,and 64 healthy individuals were enrolled within the same period.Single nucleotide polymorphism of ALK,EGFR,and ROS1 were detected.Dominant model by logistic regression was used to analyze the relationship between genetic polymorphisms and NSCLC.Result The incidence of ALK,EGFR,and ROS1 mutations was higher in NSCLC patients compared with that in healthy individuals.Polymorphisms of ALK and EGFR markedly contributed to NSCLC but ROS1 had little effect on the occurrence of NSCLC.Polymorphisms of EGFR were the risk factors in NSCLC(P<0.05),with rs121434569 being the highest risk factor(OR=56.00).Conclusion Among the three genes,ALK and EGFR mutations affected the occurrence of NSCLC,but only EGFR mutations were risk factors of NSCLC occurrence,with the rs121434568 mutation being the strongest risk factor.