APE1基因单核苷酸多态性与肝细胞癌临床表型的相关性研究  

Study on the correlation between single nucleotide polymorphisms of APE1 gene and clinical phenotype of hepatocellular carcinoma

作　　者：陆小华[1] 朱小庆[1] 袁洪新[1] 储玉山[1] LU Xiao-hua;ZHU Xiao-qing;YUAN Hong-xin;CHU Yu-shan(Department of Interventional Radiology,Affiliated Hospital of Nantong University,Jiangsu Province,Nantong 226001,China)

机构地区：[1]南通大学附属医院介入放射科,江苏南通226001

出　　处：《中国当代医药》2020年第13期13-17,共5页China Modern Medicine

基　　金：江苏省南通市科技局基础科学研究项目(JC2018138)。

摘　　要：目的探讨APE1基因-141T/G和148Asp/Glu位点单核苷酸多态性与肝细胞癌(简称"肝癌")不同临床表型的相关性。方法选取2018年1月1日~12月31在南通大学附属医院介入放射科住院的125例初诊肝癌患者作为研究对象,提取基因组DNA,采用panel高通量数据分析进行APE1基因分型,分析各基因型与肝癌临床表型的关联性。结果-141位点杂合突变基因型TG的患者较野生型TT患者出现较晚分期的风险增加(OR=4.513,95%CI:1.411~14.445,P<0.05),纯合突变基因型GG较野生型TT患者出现较晚分期的风险增加(OR=4.444,95%CI:1.217~16.233,P<0.05),突变基因型TG+GG较野生型TT患者出现较晚分期的风险增加(OR=4.491,95%CI:1.457~13.848,P<0.05);148位点各基因型分期风险无明显关联(P>0.05)。-141位点杂合突变基因型TG的患者较野生型TT患者发生门脉侵犯的风险增加(OR=3.091,95%CI:1.019~10.064,P<0.05),纯合突变基因型GG患者较野生型TT患者发生门脉侵犯的风险增加(OR=3.789,95%CI:1.025~14.009,P<0.05),突变基因型TG+GG较野生型TT患者发生门脉侵犯的风险增加(OR=3.302,95%CI:1.061~10.276,P<0.05);148位点各基因型发生门脉侵犯的风险无明显关联(P>0.05)。-141位点各基因型发生淋巴结转移的风险无明显关联(P>0.05);148位点纯合突变基因型GG患者较野生型TT患者发生淋巴结转移的风险增加(OR=3.500,95%CI:1.018~12.03,P<0.05)。-141位点纯合突变基因型GG的患者较野生型TT患者发生远处转移的风险增加(OR=5.667,95%CI:1.074~29.891,P<0.05);148位点各基因型发生远处转移的风险无明显关联(P>0.05)。结论APE1基因单核苷酸多态性与肝癌BCLC分期、门静脉侵犯、淋巴结转移、远处转移等临床表型之间存在相关性。Objective To investigate the correlation between the single nucleotide polymorphisms of APE1 gene at the locus of-141T/G and 148Asp/Glu and different clinical phenotypes of hepatocellular carcinoma.Methods A total of 125 patients newly diagnosed with hepatocellular carcinoma who were hospitalized in the Interventional Radiology Department of the Affiliated Hospital of Nantong University from January 1 to December 31,2018 were selected as the research objects to extract genomic DNA.The panel high-throughput data analysis was adopted to conduct APE1 genotyping and the correlation between each genotype and the clinical phenotype of hepatocellular carcinoma was analyzed.Results At locus-141,patients with heterozygous mutant genotype TG had an increased risk of later stage than patients with wild-type TT(OR=4.513,95%CI:1.411-14.445,P<0.05),the patients with homozygous mutant genotype GG had an increased risk of later stage than patients with wild-type TT(OR=4.444,95%CI:1.217-16.233,P<0.05),and the risk of later stage in patients with mutant genotype TG+GG was higher than that in patients with wild type TT(OR=4.491,95%CI:1.457-13.848,P<0.05).There was no significant difference in the risk of stages of each genotype at locus 148(P>0.05).At locus-141,patients with heterozygous mutant genotype TG had an increased risk of portal vein invasion compared with patients with wild-type TT(OR=3.091,95%CI:1.019-10.064,P<0.05),the patients with homozygous mutant genotype GG had an increased risk of portal vein invasion compared with patients with wild-type TT(OR=3.789,95%CI:1.025-14.009,P<0.05),and the risk of portal vein invasion in patients who carried the mutant genotype TG+GG was higher than that in patients with wild type TT(OR=3.302,95%CI:1.061-10.276,P<0.05).There was no significant difference in the risk of portal vein invasion among all genotypes at locus 148(P>0.05).There was no significant difference in the risk of lymph node metastasis among genotypes at locus-141(P>0.05).At locus 148,patients with homozygous mutation G

关 键 词：APE1 肝细胞癌 单核苷酸多态性 临床表型 

分 类 号：R735.7[医药卫生—肿瘤]