Departments of Nephrology, The Fourth Hospital of Hebei Medical University, Shijiazhuang, China.
Sci Rep. 2013;3:2408. doi: 10.1038/srep02408.
The accumulation of single nucleotide polymorphisms (SNPs) in the displacement loop (D-loop) of mitochondrial DNA (mtDNA) has been described in various types of cancers, and their association with cancer risk and disease outcome has been extensively identified. In the present study, we investigated the association between age-at-onset and SNPs in the mitochondrial D-loop using a population-based series of renal cell carcinoma(RCC). The SNP sites of nucleotides 16293A/G were identified for their association with age-at-onset using the log-rank test. The age-at-onset of patients with the minor allele G genotype was significantly lower than that of patients with the A genotype at the 16293 site (p < 0.001). Genetic polymorphisms in the D-loop are predictive markers of age-at-onset in RCC patients. Accordingly, the analysis of genetic polymorphisms in the mitochondrial D-loop may help identify RCC patient subgroups at high risk of early onset.
单核苷酸多态性（SNPs）在线粒体 DNA（mtDNA）的置换环（D-loop）中的积累已在各种类型的癌症中被描述，并且它们与癌症风险和疾病结果的关联已被广泛确定。在本研究中，我们使用基于人群的肾细胞癌（RCC）系列研究了线粒体 D 环中的 SNP 与发病年龄的关系。使用对数秩检验鉴定核苷酸 16293A / G 处的 SNP 位点与发病年龄的关系。16293 位点的 G 基因型患者的发病年龄明显低于 A 基因型患者（p <0.001）。D 环中的遗传多态性是 RCC 患者发病年龄的预测标志物。因此，分析线粒体 D 环中的遗传多态性可能有助于确定具有早期发病高风险的 RCC 患者亚组。
