Department of Epidemiology, School of Public Health, Fudan University; Key Laboratory of Public Health Security, Ministry of Education, Shanghai, 200032, China.
BMC Med Genet. 2012 Jan 3;13:1. doi: 10.1186/1471-2350-13-1.
Survivin, one of the strongest apoptosis inhibitors, plays a critical role in the development and progression of hepatocellular carcinoma (HCC). By comparison, relatively little is known about the effect of survivin gene polymorphisms on HCC susceptibility. Our study aimed to investigate the association of survivin gene polymorphisms with the risk of HCC in Chinese han population.
A case-control study was conducted in Chinese han population consisting of 178 HCC cases and 196 cancer-free controls. Information on demographic data and related risk factors was collected for all subjects. Polymorphisms of the survivin gene, including three loci of rs8073069, rs9904341 and rs1042489, were selected and genotyped by a polymerase chain reaction- restriction fragment length polymorphism (PCR-RFLP) technique. Association analysis of genotypes/alleles and haplotypes from these loci with the risk of HCC was conducted under different genetic models.
Using univariate analysis of rs8073069, rs9904341 and rs1042489 under different genetic models, no statistically significant difference was found in genotype or allele distribution of HCC cases relative to the controls (P > 0.05). Linkage disequilibrium (LD) analysis showed that these loci were in LD. Multivariate logistic regression indicated that with no G-C-T haplotype as reference, the haplotype of G-C-T from these loci was associated with a lower risk for HCC under the recessive model (OR = 0.46, 95% confidence interval (CI): 0.24~0.90, P = 0.023). Both HBsAg+ and the medical history of viral hepatitis type B were risk factors for HCC. However, no statistically significant haplotype-environment interaction existed.
No association between rs8073069, rs9904341 or rs1042489 in survivin gene and the risk of HCC is found in Chinese han population, but rs8073069G-rs9904341C- rs1042489T is perhaps a protective haplotype for HCC.
凋亡抑制蛋白 Survivin 是最强的凋亡抑制剂之一,在肝细胞癌 (HCC) 的发生和发展中起着关键作用。相比之下,关于 Survivin 基因多态性对 HCC 易感性的影响知之甚少。我们的研究旨在探讨 Survivin 基因多态性与中国汉族人群 HCC 发病风险的关系。
采用病例对照研究,纳入 178 例 HCC 患者和 196 例无癌对照,收集所有受试者的人口统计学资料及相关危险因素。选择 Survivin 基因的 3 个位点 rs8073069、rs9904341 和 rs1042489,采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)技术进行基因分型。在不同遗传模型下,对这些位点的基因型/等位基因和单倍型与 HCC 发病风险的关联进行分析。
在 rs8073069、rs9904341 和 rs1042489 的单变量分析中,不同遗传模型下 HCC 病例与对照组在基因型或等位基因分布上无统计学差异(P>0.05)。连锁不平衡(LD)分析显示这些位点存在 LD。多变量 logistic 回归分析表明,以无 G-C-T 单倍型为参照,这些位点的 G-C-T 单倍型与 HCC 的发病风险呈负相关(OR=0.46,95%置信区间:0.24~0.90,P=0.023)。HBsAg+和乙型肝炎病毒病史是 HCC 的危险因素,但不存在统计学意义上的单倍型-环境交互作用。
在中国汉族人群中,未发现 Survivin 基因的 rs8073069、rs9904341 或 rs1042489 与 HCC 发病风险相关,但 rs8073069G-rs9904341C-rs1042489T 可能是 HCC 的保护性单倍型。