SMAD7基因多态性与非小细胞肺癌易感性的相关性研究

目的 探讨SMAD7基因rs12953717位点多态性与非小细胞肺癌（NSCLC）易感性的关系.方法 采用Sequenom系统对528例NSCLC患者和762例健康对照进行rs12953717位点基因型检测,采用非条件Logistic回归方法对检测结果进行相关统计.结果 rs12953717位点基因型在病例组和对照组中的差异具有显著统计学意义（χ^2=135.44,P=0.000 1）,杂合基因型（CT）与纯合基因型（CC/TT）相比较,OR值为4.107（95％ CI为3.206～5.260,P=0.000 1）.吸烟人群患NSCLC的危险性是非吸烟人群的2.004倍,（OR =2.004,95％ CI为1.583 ～2.537,P=0.000 1）;携带CT型基因且吸烟个体患病危险性显著增加（OR=10.074,95％ CI为6.964～ 14.573,P=0.000 1）.结论 SMAD7基因rs12953717位点多态性与NSCLC发病相关,杂合型CT为NSCLC的易感基因型,吸烟是NSCLC发病的易感因素,二者在发病易感性方面具有协同性.

Polymorphism of SMAD7 and susceptibility to non-small cell lung cancer

Objective To explore the relationship between single nucleotide polymorphisms （rs12953-717） of SMAD7 and susceptibility of non-small cell lung cancer （NSCLC） in Chinese Han population.Methods A single nucleotide polymorphisms （rs12953717） from SMAD7 was detected via Sequenom system in 528 NSCLC cases and 762 healthy controls.Data was statistically analyzed by unconditional Logistic regression method.Results rs12953717 had significant differences between non-small cell lung cancer patients and the controls.Compared with CC/TT （CC combined with TT） genotype,the adjusted odds ratio for the CT genotype was 4.107 （95％ CI：3.206 ～ 5.260,P =0.000 1）.Smokers had a 2.004 odds ratio （95 ％ CI =1.583 ～ 2.537,P =0.000 1） of NSCLC compared with the controls.There was a 10.074-fold increased risk of NSCLC among the subjects with CT genotype and smokers.Conclusion The polymorphism of rs12953717 may have relation with risk of NSCLC.Heterozygote （CT） is a susceptibility genotype of NSCLC.Smoking is one of the risk factors of NSCLC.Smoking and CT genotype have synergistic effects on NSCLC susceptibility.