Molecular Biology and Viral Oncology and AIDS Ref, Centre, National Cancer Institute "Fond, Pascale", Naples, Italy.
Infect Agent Cancer. 2011 Aug 15;6:13. doi: 10.1186/1750-9378-6-13.
Single-nucleotide polymorphisms within TP53 gene (codon 72 exon 4, rs1042522, encoding either arginine or proline) and MDM2 promoter (SNP309; rs2279744), have been independently associated with increased risk of several cancer types. Few studies have analysed the role of these polymorphisms in the development of hepatocellular carcinoma.
Genotype distribution of TP53 codon 72 and MDM2 SNP309 in 61 viral hepatitis-related hepatocellular carcinoma cases and 122 blood samples (healthy controls) from Italian subjects were determined by PCR and restriction fragment length polymorphism (RFLP).
Frequencies of TP53 codon 72 alleles were not significantly different between cases and controls. A significant increase of MDM2 SNP309 G/G and T/G genotypes were observed among hepatocellular carcinoma cases (Odds Ratio, OR = 3.56, 95% Confidence Limits, 95% CI = 1.3-9.7; and OR = 2.82, 95% CI = 1.3-6.4, respectively).
These results highlight a significant role of MDM2 SNP309 G allele as a susceptibility gene for the development of viral hepatitis-related hepatocellular carcinoma among Italian subjects.
TP53 基因（第 72 密码子外显子 4，rs1042522，编码精氨酸或脯氨酸）和 MDM2 启动子（SNP309；rs2279744）中的单核苷酸多态性已被独立关联到多种癌症类型的风险增加。少数研究分析了这些多态性在肝细胞癌发展中的作用。
通过聚合酶链反应和限制性片段长度多态性（RFLP），确定了 61 例病毒相关性肝细胞癌病例和 122 例意大利受试者血液样本（健康对照）中 TP53 密码子 72 和 MDM2 SNP309 的基因型分布。
病例和对照组之间 TP53 密码子 72 等位基因的频率无显著差异。肝细胞癌病例中观察到 MDM2 SNP309 G/G 和 T/G 基因型显著增加（优势比，OR=3.56，95%置信区间，95%CI=1.3-9.7；和 OR=2.82，95%CI=1.3-6.4）。
这些结果突出表明 MDM2 SNP309 G 等位基因作为意大利人群中病毒相关性肝细胞癌发生的易感基因具有重要作用。
