PNPLA3基因多态性与原发性肝癌遗传易感性的相关性研究

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（P>0.05）。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，P<0.05）。结论：rs738409基因表型与原发性肝癌发病风险具有相关性。%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(P>0.05). The 148 GG,148 CG,148 CC genotype frequency distribution had differences between the HCC group and the control group(X2=6.30,P<0.05).Conclusion:The rs738409 genetic phenotypes is obviously associated with primary liver cancer risk.