Guo Zhanjun, Yang Hua, Wang Cuiju, Liu Shufeng
Departments of Gastroenterology and Hepatology, and.
Exp Ther Med. 2012 Mar;3(3):499-502. doi: 10.3892/etm.2011.434. Epub 2011 Dec 27.
The accumulation of single nucleotide polymorphisms (SNPs) in the displacement loop (D-loop) of mitochondrial DNA (mtDNA) has been associated with various types of cancer. The association of SNPs with cancer risk and disease outcome has been exhaustively studied. In this study, we investigated the association of age-at-onset and SNPs in the mitochondrial D-loop using a population-based series of hepatocellular carcinoma (HCC) patients. Haplogroup M (489C) and allele 235G were identified for their association with the late onset of HCC by the log-rank test. In an overall multivariate analysis, haplogroup M (489C) was identified as an independent predictive factor for the age-at-onset of HCC at borderline significant levels [relative risk, 1.736; 95% confidence interval (CI), 0.967-3.115; p=0.065]. Genetic polymorphisms in the D-loop are predictive markers for age-at-onset in HCC patients. Accordingly, the analysis of genetic polymorphisms in the mitochondrial D-loop may help to identify HCC patient subgroups at high risk of early onset of the disease.
线粒体DNA（mtDNA）置换环（D环）中单核苷酸多态性（SNP）的积累与多种类型的癌症相关。SNP与癌症风险和疾病转归的关联已得到详尽研究。在本研究中，我们使用基于人群的一系列肝细胞癌（HCC）患者，调查了线粒体D环中SNP与发病年龄的关联。通过对数秩检验确定单倍群M（489C）和等位基因235G与HCC发病较晚有关。在总体多变量分析中，单倍群M（489C）在临界显著水平被确定为HCC发病年龄的独立预测因素[相对风险，1.736；95%置信区间（CI），0.967 - 3.115；p = 0.065]。D环中的基因多态性是HCC患者发病年龄的预测标志物。因此，分析线粒体D环中的基因多态性可能有助于识别疾病早发高危的HCC患者亚组。
