论文部分内容阅读
目的:探讨含缬酪肽蛋白(valosin containing protein,VCP)基因不同位点单核苷酸多态性(single nucleotide polymorphism,SNP)与肝细胞癌(hepatocellular carcinoma,HCC)的关系。方法:采用病例组与对照组研究,收集122例HCC(HCC组)和120例非HCC(对照组)外周血标本,对VCP基因的4个标签SNPs采用直接测序法进行基因测定分型。采用卡方检验比较基因型及等位基因在HCC组与对照组之间分布的差异,采用非条件Logistic回归分析多态基因型与HCC的关系。结果:rs546982位点等位基因及基因型在HCC组与对照组中的分布具有显著性差异(P<0.05)。携带rs546982位点AA基因型者比GG基因型者发生HCC风险低,而携带AA基因型的HCC病人比携带GG基因型的HCC病人发生脉管癌栓及淋巴结转移的风险高。位点rs2074549、rs607671、rs10972300的基因型在HCC组和对照组之间差异无统计学意义。结论:VCP基因多态性与HCC存在关联,rs546982位点AA基因型可降低HCC发生率,但可增加HCC病人的淋巴结转移及脉管癌栓的风险。
Objective: To investigate the relationship between single nucleotide polymorphism (SNP) at different sites of valsin containing protein (VCP) gene and hepatocellular carcinoma (HCC). Methods: 122 cases of HCC (HCC group) and 120 cases of non-HCC (control group) were collected from case group and control group. The four tagged SNPs of VCP gene were sequenced by direct sequencing. The chi-square test was used to compare the distribution of genotype and allele between HCC group and control group. The relationship between polymorphism genotypes and HCC was analyzed by non-conditional Logistic regression. Results: There was a significant difference in the distribution of rs546982 allele and genotype between HCC group and control group (P <0.05). HCC patients with AA genotypes at rs546982 locus have a lower risk of developing HCC than those with GG genotypes, whereas HCC patients with AA genotypes have a higher risk of developing vascular emboli and lymph node metastases than HCC patients with GG genotype. The loci rs2074549, rs607671, rs10972300 genotypes in the HCC group and the control group, the difference was not statistically significant. Conclusion: VCP gene polymorphism is associated with HCC. AA genotype at rs546982 may reduce the incidence of HCC, but may increase the risk of lymph node metastasis and vascular embolism in HCC patients.