title: Single nucleotide polymorphisms in the D-loop region of mitochondrial DNA is associated with renal cell carcinoma outcome.
abstract: 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 might be associated with cancer risk and disease outcome. We identified 14 SNPs with a frequency higher than 5% and 5 SNPs associated with the risk of renal cell carcinoma (RCC) in a case-control study previously. In the present study, we assessed the relationship of these SNPs and the outcome of RCC patients, a SNP of 262C/T was identified by the log-rank test for statistically significant prediction of RCC survival. In an overall multivariate analysis, allele 262 was identified as an independent predictor of RCC outcome. The length of survival of patients with 262T was significantly shorter than that of patients with allele 262C (relative risk, 2.136, 95%CI, 1.863-2.449; p = 0.000). The analysis of genetic polymorphisms in the mitochondrial D-loop can help identify patients subgroup at high risk of a poor disease outcome.
authors.affiliation: Department of Nephrology .
authors.forename: Yaling
authors.initials: Y
authors.lastname: Bai
authors.forename: Zhanjun
authors.initials: Z
authors.lastname: Guo
authors.forename: Jinsheng
authors.initials: J
authors.lastname: Xu
authors.forename: Shufeng
authors.initials: S
authors.lastname: Liu
authors.forename: Junxia
authors.initials: J
authors.lastname: Zhang
authors.forename: Liwen
authors.initials: L
authors.lastname: Cui
authors.forename: Huiran
authors.initials: H
authors.lastname: Zhang
authors.forename: Shenglei
authors.initials: S
authors.lastname: Zhang
mesh_terms: D002292:Carcinoma, Renal Cell / Q000235:genetics* / Q000401:mortality; D016022:Case-Control Studies; D004272:DNA, Mitochondrial / Q000737:chemistry*; D005260:Female; D006801:Humans; D007680:Kidney Neoplasms / Q000235:genetics* / Q000401:mortality; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D015996:Survival Rate
chemical_list: D004272:DNA, Mitochondrial
keywords: D-loop; SNP; mtDNA; outcome; renal cell carcinoma