线粒体DNA区域V中第8272位的9个碱基对缺失与肾细胞癌的预后相关。

The 9-bp deletion at position 8272 in region V of mitochondrial DNA is associated with renal cell carcinoma outcome.

作者信息

Bai Yaling, Guo Zhanjun, Xu Jinsheng, Zhang Junxia, Cui Liwen, Zhang Huiran, Zhang Shenglei

机构信息

a Departments of Nephrology and.

b Departments of Gastroenterology and Hepatology , The Fourth Hospital of Hebei Medical University , Shijiazhuang , P.R. China.

出版信息

Mitochondrial DNA A DNA Mapp Seq Anal. 2016 May;27(3):1973-5. doi: 10.3109/19401736.2014.971312. Epub 2014 Oct 20.

DOI:10.3109/19401736.2014.971312

PMID:25329286

Abstract

Mitochondrial DNA (mtDNA) is considered a mutation hotspot in various types of tumors, and mitochondrial DNA microsatellite instability (mtMSI) is associated with various cancers. We had previously identified cancer risk-associated MSIs in the D-loop region of mtDNA in renal cell carcinoma (RCC) patients. In the present study, we further investigated the association of MSIs in the non-D-loop region of mtDNA with cancer risk and outcome of RCC. Six microsatellite loci (5892, 8272, 8280, 8281, 8289, 9777) in the non-D-loop of mtDNA were assessed. The CCCCCTCTA at position 8272 was associated with cancer outcome in an overall multivariate analysis (relative risk, 1.599; 95%CI, 1.365-1.872; p < 0.001). mtMSI at position 8272 can therefore be used as an independent prognostic marker for RCC patients.

摘要

线粒体DNA（mtDNA）被认为是各类肿瘤中的一个突变热点，线粒体DNA微卫星不稳定性（mtMSI）与多种癌症相关。我们之前已在肾细胞癌（RCC）患者的mtDNA D环区域鉴定出与癌症风险相关的微卫星不稳定性。在本研究中，我们进一步探究了mtDNA非D环区域的微卫星不稳定性与RCC癌症风险及预后的关联。评估了mtDNA非D环区域的六个微卫星位点（5892、8272、8280、8281、8289、9777）。在一项总体多变量分析中，8272位点的CCCCCTCTA与癌症预后相关（相对风险，1.599；95%置信区间，1.365 - 1.872；p < 0.001）。因此，8272位点的mtMSI可作为RCC患者的独立预后标志物。