叶酸代谢通路关键酶基因多态性的肝癌易感性分析

Association Study on Genetic Polymorphisms of Folate Metabolism Genes and Susceptibility of Hepatocellular Carcinoma

探讨叶酸代谢通路关键酶基因多态位点与肝细胞性肝癌（Hepatocellular Carcinoma,HCC）发生的相关性.采集205例HCC患者和200例对照人群的血液样本,提取DNA后用SNaPshot技术对叶酸代谢基因多态MTHFRc.677C〉T,c.1298A〉G;MTR-186T〉G,c2756A〉G,＋905G〉A;MTRRc56＋781A〉G,c66A〉G,CBS-551C〉G进行基因分型及遗传易感性研究.关联分析结果表明：在隐性遗传模式下,MTR启动子区-186G等位基因与肝癌患病风险增加相关（P=0.028）,携带G/G基因型的个体患肝癌的风险是G/T和T/T等位基因型个体的1.71倍（OR=1.71,95%CI：1.06~2.78）.MTR-186T〉G是肝癌发生的遗传性风险因子.

To investigate the association between SNPs in key genes of folate metabolism pathway and hepatocellular careinoma（HCC）. The ease-control study of 8 SNPs were carried out in 205 HCC patients and 200 control participants through SNaPshot. These SNPs included, MTHFR c. 677C〉T, c. 1298A〉G; MTR --186T〉G, c2756A〉G, ＋905G〉A; MTRR c56＋781 A〉G, c66A〉G, CBS--551C〉G. Association study on the 8 SNPs and HCC demonstrated that G allele in rs28372871 was significantly associated with HCC in recessive model（P=0. 028）. Individuals with G/G genotype had 1.71-fold risk to be affected by HCC than those bearing C/T and T/T genotype（OR=1. 71,95% CI： 1.06--2.78）. G allele in MTR--186T〉G is a genetic risk factor in human HCC.