Cukurova University, Faculty of Medicine, Department of Gastroenterology, Adana, Turkey.
Cancer Epidemiol. 2010 Jun;34(3):298-302. doi: 10.1016/j.canep.2010.02.011. Epub 2010 Mar 27.
A common G to A polymorphism (G870A) in the splice donor region of exon 4 of cyclin D1 (CCND1) gene generates two mRNAs (cyclin D1a and D1b) through an alternative splicing at the site of this polymorphism. Cyclin D1a and b proteins differ in their COOH-terminus, a region involved in protein degradation. We examined the association between this CCDN1 genotype and the susceptibility to hepatocellular carcinoma (HCC) in a Turkish population.
The genotype frequency of this polymorphism was determined by using a polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) assay. Hospital-based case-control study was designed consisting of 160 diagnosis subjects with hepatocellular carcinoma and 160 cancer-free control subjects matched on age, gender, smoking and alcohol status.
The allele frequencies of case subjects (A, 0.55; G, 0.45) were significantly different from those of control subjects (A, 0.42; G, 0.58) (p=0.002). The odds ratios (ORs) for the CCND1 870 GA and AA genotypes when compared with the GG genotypes were 1.39 (95% confidence interval [CI] 0.82-2.36, p=0.22) and 2.52 (95% CI 1.38-4.62, p=0.003) respectively. The presence of at least one CCND1 870A allele was associated with increased risk for HCC (OR, 1.73; 95% CI, 1.06-2.82, p=0.03). When combining the GG and GA genotypes as a reference genotype, we found that the OR for the AA genotype was 2.06 (95% CI 1.24-3.44, p=0.006).
Our results suggest that the CCND1 G870A single nucleotide polymorphism is associated with an increased risk of HCC in our Turkish population.
细胞周期蛋白 D1(CCND1)基因外显子 4 剪接供体区域的常见 G 到 A 多态性(G870A)通过该多态性位点的选择性剪接产生两种 mRNA(cyclin D1a 和 D1b)。cyclin D1a 和 b 蛋白在其羧基末端存在差异,该区域涉及蛋白质降解。我们在土耳其人群中研究了这种 CCDN1 基因型与肝细胞癌(HCC)易感性之间的关系。
使用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)检测该多态性的基因型频率。设计了一项基于医院的病例对照研究,包括 160 名诊断为肝细胞癌的患者和 160 名年龄、性别、吸烟和饮酒状况相匹配的无癌症对照。
病例组的等位基因频率(A,0.55;G,0.45)与对照组的等位基因频率(A,0.42;G,0.58)有显著差异(p=0.002)。与 GG 基因型相比,CCND1 870GA 和 AA 基因型的优势比(OR)分别为 1.39(95%置信区间[CI]0.82-2.36,p=0.22)和 2.52(95%CI1.38-4.62,p=0.003)。至少存在一个 CCND1 870A 等位基因与 HCC 风险增加相关(OR,1.73;95%CI,1.06-2.82,p=0.03)。当将 GG 和 GA 基因型组合为参考基因型时,我们发现 AA 基因型的 OR 为 2.06(95%CI1.24-3.44,p=0.006)。
我们的结果表明,在我们的土耳其人群中,CCND1 G870A 单核苷酸多态性与 HCC 风险增加相关。