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hEXO1基因单核苷酸多态性与肝细胞癌的相关性研究

覃若云 谭盛葵 仇小强 谭超 刘柳 黄雄 李岸花 龙静铧 廖倩 杨筱筠

覃若云, 谭盛葵, 仇小强, 谭超, 刘柳, 黄雄, 李岸花, 龙静铧, 廖倩, 杨筱筠. hEXO1基因单核苷酸多态性与肝细胞癌的相关性研究[J]. 中华疾病控制杂志, 2016, 20(2): 116-120. doi: 10.16462/j.cnki.zhjbkz.2016.02.003
引用本文: 覃若云, 谭盛葵, 仇小强, 谭超, 刘柳, 黄雄, 李岸花, 龙静铧, 廖倩, 杨筱筠. hEXO1基因单核苷酸多态性与肝细胞癌的相关性研究[J]. 中华疾病控制杂志, 2016, 20(2): 116-120. doi: 10.16462/j.cnki.zhjbkz.2016.02.003
QIN Ruo-yun, TAN Sheng-kui, QIU Xiao-qiang, TAN Chao, LIU Liu, HUANG Xiong, LI An-hua, LONG Jing-hua, LIAO Qian, YANG Xiao-yun. Association of hEXO1 gene polymorphism with hepatocellular carcinoma[J]. CHINESE JOURNAL OF DISEASE CONTROL & PREVENTION, 2016, 20(2): 116-120. doi: 10.16462/j.cnki.zhjbkz.2016.02.003
Citation: QIN Ruo-yun, TAN Sheng-kui, QIU Xiao-qiang, TAN Chao, LIU Liu, HUANG Xiong, LI An-hua, LONG Jing-hua, LIAO Qian, YANG Xiao-yun. Association of hEXO1 gene polymorphism with hepatocellular carcinoma[J]. CHINESE JOURNAL OF DISEASE CONTROL & PREVENTION, 2016, 20(2): 116-120. doi: 10.16462/j.cnki.zhjbkz.2016.02.003

hEXO1基因单核苷酸多态性与肝细胞癌的相关性研究

doi: 10.16462/j.cnki.zhjbkz.2016.02.003
基金项目: 

国家自然科学基金(81160359);广西自然科学基金(2012GXNSFAA053149)

详细信息
    作者简介:

    覃若云(1989-),女,广西贵港人,在读硕士研究生。主要研究方向:慢性病流行病学。

  • 中图分类号: R730.267;R363.25

Association of hEXO1 gene polymorphism with hepatocellular carcinoma

  • 摘要: 目的 探讨肝细胞癌(hepatocellular carcinoma,HCC)遗传易感性与人类核酸外切酶1(human exonuclease 1,hEXO1)基因多态性的相关性。方法 应用病例对照方法,分别选取1 199例无HCC患者作为对照组,1 196例HCC患者作为病例组。选取hEXO1 基因的rs1047840、rs1776148位点进行基因分型,采取高通量 TaqMan MGB 实时荧光定量聚合酶链式反应(real-time fluorescent quantitative polymerase chain reaction,RT-PCR)进行基因分型。HCC 发病风险与位点rs1047840、rs1776148单核苷酸多态性(single nucleotide polymorphism,SNP)的相关性应用二分类Logistic 回归模型进行分析,同时研究吸烟、饮酒、乙型肝炎病毒(hepatitis B virus,HBV)感染等环境因素与位点rs1047840、rs1776148多态性的交互作用。结果 位点rs1047840、rs1776148基因型在对照组、病例组的分布差异均无统计学意义(均有P>0.05)。经分层分析,rs1047840、rs1776148与 HCC 发病风险均无统计学关联(均有P>0.05)。交互作用分析结果显示,位点rs1047840、rs1776148基因多态性与吸烟、饮酒、HBV 感染均存在交互作用。结论 饮酒、吸烟、HBV 感染等环境危险因素与rs1047840、rs1776148的交互作用可能与 HCC 发生有关。
  • Bosetti C, Turati F, La Vecchia C, et al. Hepatocellular carcinoma epidemiology [J]. Best Pract Res Clin Gastroenterol, 2014,28(5):753-770.
    Muro Y, Sugiura K, Mimor T, et al. DNA mismatch repair enzymes: genetic defects and autoimmunity [J]. Clin Chim Acta, 2015,442:102-109.
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    Nielsen FC, Jäger AC, Lützen A, et al. Characterization of human exonuclease 1 in complex with mismatch repair proteins, subcellular localization and association with PCNA [J]. Oncogene, 2004,23(7):1457-1468.
    Tishkoff DX, Amin NS, Viars CS, et al. Identification of a human gene encoding a homologue of Saccharomyces cerevisiae EXO1, an exonuclease implicated in mismatch repair and recombination [J]. Cancer Res, 1998,58(22):5027-5031.
    Sun X, Zheng L, Shen B. Functional alterations of human exonuclease 1 mutants identified in atypical hereditary nonpolyposis colorectal cancer syndrome [J]. Cancer Res, 2002,62(21):6026-6030.
    Hansen LT, Thykjaer T, Ørntoft TF, et al. The role of mismatch repair in small-cell lung cancer cells [J]. Eur J Cancer, 2003,39(10):1456-1467.
    Thompson E, Meldrum CJ, Crooks R. Hereditary non-polyposis colorectal cancer and the role of hPMS2 and hEXO1 mutations [J]. Clin Genet, 2003,65(3):215-225.
    Bak ST, Sakellariou D, Pena-Diaz J. The dual nature of mismatch repair as antimutator and mutator: for better or for worse [J]. Front Genet, 2014,5:287.
    Ladd PD, Wilson DM, Kelley MR. Identification of the human HEX1/hExo1 gene promoter and characterization of elements responsible for promoter activity [J]. DNA Repair (Amst), 2003,2(2):187-198
    Jäger AC, Rasmussen M, Bisgaard HC, et al. HNPCC mutations in the human DNA mismatch repair gene hMLH1 influence assembly of hMutLalpha and hMLH1-hEXO1 complexes [J]. Oncogene, 2001,20(27):3590-3595.
    Thompson E, Meldrum CJ, Crooks R, et al. Hereditary nonpolyposis colorectal cancer and the role of hPMS2 and hEXO1 mutations[J]. Clin Genet, 2004,65(3): 215-225.
    Wu Y, Berends MJ, Post JG, et al. Germline mutations of Exo1 gene in patients with hereditary nonpolyposis colorectal cancer (HNPCC) and atypical HNPCC forms [J]. Gastroenterology, 2001,120(7):1580-1587.
    Jin G, Wang H, Hu Z.Potentially functional polymorphisms of EXO1 and risk of lung cancer in a Chinese population: a case-control analysis [J]. Lung Cancer, 2008, 60(3): 340-346.
    谭盛葵,仇小强,余红平,等. 广西肝癌高发区原发性肝癌危险因素 Logistic 回归分析 [J]. 华夏医学, 2008,21(1):29-31.
    Miyata M, Morishita A, Sakamoto T, et al.MicroRNA profiles in cisplatin-induced apoptosis of hepatocellular carcinoma cells [J]. Int J Oncol, 2015,47(2):535-542.
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出版历程
  • 收稿日期:  2015-11-03
  • 修回日期:  2016-01-02

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