PIM1启动子区基因多态性与非小细胞肺癌易感性的相关性研究

Single Nucleotide Polymorphism in PIM1 Promoter and Non-small Cell Lung Cancer Susceptibility

目的:原癌基因PIM1通过活化下游基因,参与细胞增殖、分化及肿瘤形成。本研究旨在探讨中国人群PIM1基因启动子区(-1 882A>T)单核苷酸多态性与非小细胞肺癌易感性的相关性。方法:应用聚合酶链反应-直接测序法检测25例患者及25例正常对照者的PIM1基因启动子区多态性,应用聚合酶链反应-直接测序法检测206例非小细胞肺癌患者以及189例正常对照者-1 882A>T多态性位点的基因型,并进行病例、对照相对危险度分析。结果:等位基因-1 882T在肺癌患者和健康对照者中频率分别为6.8%和11.0%,等位基因分布频率在两组间存在显著性差异(P=0.025)。相对危险度分析显示携带TA+TT基因型者发生非小细胞肺癌的风险明显低于携带AA基因型者(OR=0.568,95%CI=0.335～0.962,P=0.034)。结论:中国人中PIM1基因启动子区单核苷酸多态性(-1 882A>T)与非小细胞肺癌发生可能有关,T等位基因的存在可能降低肺癌发生的风险,可能是发生非小细胞肺癌的保护性因素。

Objective： To evaluate the association between the polymorphism in the DNA promoter region and the risk of lung cancer in the Chinese population. Methods： The promoter region of the PIM 1 gene was amplified through polymerase chain reaction （ PCR ） and sequenced in 25 randomly selected control subjects and 25 lung cancer patients. The PIM1 -1882A 〉 T polymorphism was done via PCR and sequenced in 206 lung cancer patients and 189 control subjects. A case-control study was performed to evaluate the association between polymorphism and lung cancer risk. Results： The allele frequency of-1882 A 〉 T of patients and controls was 6.8% versus 11%, respectively, and a significant difference between allele frequencies in lung cancer patients and healthy control patients was observed （ P = 0.025 ）. Relative risk analysis showed that the genotype of AT＋ TT vs. AA decreased the risk of developing non-small-cell lung cancer （ NSCLC ） （ OR - 0.568, 95%CI = 0.335-0.962, P = 0.034 ）. Conclusion： The PIM1 SNP （ -1882 A 〉 T ） was associated with the NSCLC risk in the Chinese population, and the PIM1 -1882 A 〉 T polymorphism may help in reducing the risk of lung cancer.