PNPLA3基因多态性与原发性肝癌遗传易感性相关性研究.docVIP

PNPLA3基因多态性与原发性肝癌遗传易感性相关性研究 　　【摘要】 目的：评估PNPLA3 I148M基因多态性与原发性肝细胞癌（HCC）相关性，并探讨其机制。方法：本研究纳入HCC患者67例和健康对照组69例，对照组无肝癌家族史及肝病病史。通过聚合酶链反应（PCR）及基因测序法检测PNPLA3 rs738409基因表型，通过Hardy-weinbeurg遗传平衡定律分析HCC组与对照组各基因型是否具有群体代表。通过 字2检验分析HCC组rs738409各基因型的频率分布有无差异。结果：对HCC组及对照组经吻合度检验，各组基因多态性分布均符合Hardy-Weinberg（H-W）平衡法则（P0.05）。HCC组与对照组148 GG、148 CG、148 CC基因型频率分布差异均有统计学意义（ 字2=6.30，P0.05）。结论：rs738409基因表型与原发性肝癌发病风险具有相关性。 　　【关键词】 PNPLA3； 基因测序； 原发性肝癌 　　【Abstract】 Objective：To explore the relationship between PNPLA3 I148M gene polymorphism and hepatocellular carcinoma （HCC）， and discuss its pathogenesis.Method：67 patients with HCC and 69 cases of healthy control were selected as the subjects. The healthy control subjects had no family history of liver cancer and liver disease history. The sequence fragments of PNPLA3 rs738409 gene polymorphism in all cases were detected by utilizing the polymerase chain reaction （PCR） and gene sequencing orderly. Whether each genotype of the HCC group and the control group had group representation or not was based on Hardy-weinbeurg genetic equilibrium analysis. The genotype frequencies in cases and controls were compared by Chi-square test.Result：The HCC group and the control group were conformed with Hardy-Weinberg （H-W） balance （P0.05）. The 148 GG， 148 CG， 148 CC genotype frequency distribution had differences between the HCC group and the control group （ 字2=6.30，P0.05）.Conclusion：The rs738409 genetic phenotypes is obviously associated with primary liver cancer risk. 　　【Key words】 PNPLA3； Gene sequencing technology； Hepatocellular carcinoma 　　First-author’s address：The Second Clinical Medical College of Shanxi Medical University，Taiyuan 030002，China 　　doi：10.3969/j.issn.1674-4985.2014.18.004 　　肝细胞癌（HCC）是最常见的肝脏恶性疾病，与乙肝和丙肝病毒、酒精、肥胖及罕见的遗传性肝脏疾病相关。环境毒素、糖尿病和家族史也是不可忽视的因素，此外国内外大量研究证实遗传变异与肝癌易感性密切相关[1-2]。特别是编码patatin样磷脂酶域3（PNPLA3）148M蛋白的基因rs738409与原发性肝癌的关系逐渐引起大家的关注。 　　1 资料与方法 　　1.1 一般资料 选取2012年5月-2013年10月山西医科大学第二附属医院消化内科、肿瘤科病房原发性肝癌（HCC）患者67例为HCC组，其中男62例，女5例，年