Abstract

背景与目的肺癌是全球癌症相关死亡的主要原因,单核苷酸多态性(single nucleotide polymorphism, SNP)是导致肺癌发生的重要因素之一,但其机制仍未阐明。本研究拟探讨CDH1、FANCB、APC基因SNP与肺癌遗传易感性的关系。方法采用病例对照研究方法,收集来自天津医科大学总医院肺部肿瘤外科270例肺癌病例,同时收集445名健康志愿者的血液样本作为对照,并提取基因组DNA,使用TaqmanⓇ SNP基因分型试剂盒进行基因分型,分析CDH1基因rs201141645、FANCB基因rs754552650和APC基因rs149353082三个SNPs位点在中国人群中的分布。采用卡方检验和Logistic回归分析探索不同基因型与肺癌发病风险之间的关系。结果FANCB基因rs754552650位点的AA、A/G和GG基因型的分布频率在对照组中分别为27.2%、52.6%和20.2%。AA和A/G基因型分布频率在病例组中分别为93.7%、6.3%,未检测到GG基因型。FANCB基因的rs754552650位点的A/G基因型在病例组和对照组中存在显著差异。携带者患肺癌的风险明显降低(OR=0.035, 95%CI: 0.020-0.062, P < 0.001)。CDH1基因rs201141645 A/C和CC基因型仅存在于对照组中。此外,在病例组中仅发现1个样本存在APC基因rs149353082 C/G基因型。结论在中国人群中,FANCB基因rs754552650 A/G基因型携带者患肺癌的风险明显降低。

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