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目的探讨华东汉族人群中生存素(survivin)基因与原发性肝细胞癌(HCC)的相关性。方法采用病例对照研究,在江苏省海门市收集176例HCC病例和196例健康对照。应用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法对survivin基因的rs9904341和rs1042489两个位点进行基因分型,在不同的遗传模式下分别分析rs9904341和rs1042489位点的基因型及其单倍型与HCC的关系。结果单因素分析表明,在不同的遗传模式下,rs9904341及rs1042489两个位点的基因型及等位基因分布在HCC病例组及对照组间的差异均无统计学意义。连锁不平衡(LD)分析发现,rs9904341与rs1042489两个位点间存在LD(χ2=4.777,P=0.03),HCC病例组及对照组中两个位点的连锁不平衡常数D’分别为0.188和0.183。采用多因素Logistic回归分别在不同的遗传模式下进行单倍型分析,根据赤池信息量准则(AIC)值最小原则筛选出隐性遗传模式下的模型为最优模型,在隐性遗传模式下,控制饮酒、乙肝史等因素后,以不具有rs9904341C-rs1042489T(C-T)单倍型为参照,具有C-T单倍型者HCC的发病风险下降(OR=0.48,P=0.04),未发现其他与HCC有关的单倍型;多因素分析还显示HBsAg+及乙肝史为HCC的危险因素,但未发现单倍型与环境因素的交互作用。结论在华东汉族人群中,未发现survivin基因的rs9904341及rs1042489位点多态性与HCC的发病有关,但rs9904341C-rs1042489T单倍型可能是HCC的保护单倍型。
Objective To investigate the relationship between survivin gene and primary hepatocellular carcinoma (HCC) in East Han Chinese population. Methods A case-control study was conducted in 176 HCC cases and 196 healthy controls in Haimen, Jiangsu Province. The two loci of rs9904341 and rs1042489 of survivin gene were genotyped by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and the rs9904341 and rs1042489 genes were analyzed under different genetic modes Type and its haplotype and HCC. Results Univariate analysis showed that there was no significant difference in genotype and allele distribution between rs9904341 and rs1042489 in HCC cases and control groups under different genetic modes. The results of linkage disequilibrium (LD) analysis showed that there was LD (χ2 = 4.777, P = 0.03) between two loci of rs9904341 and rs1042489. The linkage disequilibrium constants D ’of two loci in HCC cases and controls were 0.188 And 0.183. Multivariate Logistic regression was used to analyze the haplotypes under different genetic models. According to the minimum principle of AIC value, the model of recessive hereditary model was selected as the optimal model. Under the recessive genetic model, Control of alcohol consumption, history of hepatitis B and other factors, with rs9904341C-rs1042489T (CT) haplotype as a reference, with CT haplotype HCC risk decreased (OR = 0.48, P = 0.04), no other found with HCC Related haplotypes. Multivariate analysis also showed that HBsAg + and HBV were the risk factors for HCC, but no interaction between haplotype and environmental factors was found. Conclusion The polymorphisms of rs9904341 and rs1042489 of survivin gene were not found in HCC patients in East China. However, haplotype rs9904341C-rs1042489T may be the protective haplotype of HCC.