AKT1基因rs1130214位点基因多态性与原发性肝癌的病例对照研究

Case-control study of primary hepatic carcinoma and rs1130214 of AKT1 gene polymorphism

目的探讨AKT1基因rs1130214位点基因多态性与原发性肝癌的关系。方法采用病例对照法,选择原发性肝癌患者127例（病例组）、肝癌高危者81例（内对照组）、健康体检者103例（外对照组）,采用聚合酶联反应-限制性片段长度多态性（PCR-RFLP）法检测AKT1基因rs1130214位点的基因多态性。结果病例组AKT1基因rs1130214位点等位基因G和T的频率分别为76.8%（195/254）和23.2%（59/254）,内对照组分别为68.1%（109/160）和31.9%（51/160）,外对照组分别为62.1%（128/206）和37.9%（78/206）。3组各等位基因分布差异有统计学意义（χ^2=11.7,P=0.003）。病例组rs1130214基因型分布纯合子TT型、野生型GG型、杂合子GT型分别为3例（2.3%）、71例（55.9%）和53例（41.7%）;内对照组中为4例（5.0%）、33例（41.3%）和43例（53.8%）,外对照组为9例（8.7%）、34例（33.0%）和60例（58.3%）,3组各基因型分布差异有统计学意义（χ^2=14.7,P=0.005）。Logistic回归分析发现与野生纯合子GG基因型相比,发生肝癌的概率为2.54倍（OR=2.41,95%CI：1.48~4.35）,为原发性肝癌的易感基因。结论 AKT1基因rs1130214位点基因多态性可能与原发性肝癌的发生有关,突变基因型（GT＋TT）可能是原发性肝癌的易感基因。

Objective To investigate the relationshaps between AKT1 gene polymorphism and primary hepatic carcinoma.Methods In the case-control study,127 cases of primary hepatic carcinoma patients were enrolled as case group,81 cases with high risk factor of hepatic carcinoma as intra-control and 103 case of health people as extra-control.PCR-RFLP was used to detect the gene polymorphism of AKT1 of rs1130214.Results In the cases group,the frequency of the alleles G and T of AKT1 of rs1130214were76.8%（195/254）and 23.2%（59/254）,68.1%（109/160）and 31.9%（51/160）in the intra-control group,62.1%（128/206）and 37.9%（78/206）in the extra-control group,respectively,and the differences of allele distribution between the three groups was statistically significant（χ~2=11.7,P =0.003）.In the case group,the genotype distribution of rs1130214 in homozygote TT,wild type GG and heterozygote TG were3（2.3%）,71（55.9%）and 53（41.7%）respectivily.In the intra-control group were 4（5.0%）,33（41.3%）and 43（53.8%）respectivily.In the extra-control group were 9（8.7%）,34（33.0%）and 60（58.3%）respectivily,and the difference the of genotype distribution among the three groups was statistically significant（χ~2=14.7,P =0.005）.Logistic regression analysis found that mutation genotype（GT＋TT）was the risk factor of primary hepatic carcinoma（OR =2.41,95%CI：1.48~4.35）,compared with wild homozygous GG genotype.Conclusion The gene polymorphism of AKT1 of rs1130214may be associated with the occurrence of primary hepatic carcinoma and mutation genotype（GT＋TT）may be the risk factor of primary hepatic carcinoma.