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

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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。

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	陆小华
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关键词 ： APE1, 肝细胞癌, 单核苷酸多态性, 临床表型

Abstract：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 GG had an increased risk of lymph node metastasis compared patients with wild-type TT (OR=3.500, 95%CI：1.018-12.03, P＜0.05).At locus -141, patients with homozygous mutation GG had an increased risk of distant metastasis compared with patients with wild-type TT (OR=5.667, 95%CI：1.074-29.891, P＜0.05).There was no significant difference in the risk of distant metastasis among all genotypes at locus 148 (P＞0.05).Conclusion The single nucleotide polymorphisms of APE1 gene are correlated with clinical phenotypes of hepatocellular carcinoma such as BCLC stage,portal vein invasion, lymph node metastasis and distant metastasis.

Key words： APE1 Hepatocellular carcinoma Single nucleotide polymorphism Clinical phenotype

基金资助:江苏省南通市科技局基础科学研究项目（JC2018 138）

通讯作者: 朱小庆，男，江苏南通人，本科，副主任医师，主要从事肿瘤、血管相关疾病的介入诊疗及研究工作

作者简介: 陆小华（1982-），男，江苏南通人，硕士，主治医师，主要从事肿瘤、血管相关疾病的介入诊疗及发病机制研究

引用本文:

陆小华；朱小庆；袁洪新；储玉山. 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[J]. 中国当代医药, 2020, 27(13): 13-17.
LU Xiao-hua ； ZHU Xiao-qing； YUAN Hong-xin； CHU Yu-shan. Study on the correlation between single nucleotide polymorphisms of APE1 gene and clinical phenotype of hepatocellular carcinoma. 中国当代医药, 2020, 27(13): 13-17.

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http://dangdaiyiyao.com/CN/ 或 http://dangdaiyiyao.com/CN/Y2020/V27/I13/13

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