Identification of sequence polymorphisms in the displacement loop region of mitochondrial DNA as a risk factor for renal cell carcinoma

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

doi:10.3892/br.2013.113

Identification of sequence polymorphisms in the displacement loop region of mitochondrial DNA as a risk factor for renal cell carcinoma

Authors:
- Junxia Zhang
- Zhanjun Guo
- Yaling Bai
- Liwen Cui
- Shenglei Zhang
- Jinsheng Xu
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Affiliations: Department of Nephrology, The Fourth Hospital of Hebei Medical University, Shijiazhuang, Hebei 050011, P.R. China, Department of Gastroenterology and Hepatology, The Fourth Hospital of Hebei Medical University, Shijiazhuang, Hebei 050011, P.R. China
Published online on: May 22, 2013 https://doi.org/10.3892/br.2013.113
Pages: 563-566

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Abstract

The accumulation of single‑nucleotide polymorphisms (SNPs) in the displacement loop (D‑loop) of mitochondrial DNA (mtDNA) may be associated with an increased cancer risk. in this case‑control study, the SNPs in the mitochondrial D‑loop of renal cell carcinoma (RCC) patients were identified and their association with cancer risk was evaluated. The minor alleles of nucleotides 16293A̸G, 262A̸G and 488T̸C were associated with an increased risk, whereas the minor alleles of nucleotides 16298T̸C and 16319G̸A were associated with a decreased risk for RCC. Moreover, the nucleotides 16293, 262, 16298 and 16319 were identified as specifically associated with the risk of clear cell RCC (ccRCC), whereas 262 and 488 were specifically associated with papillary RCC and renal oncocytoma. In conclusion, SNPs in mtDNA are potential modifiers of RCC. The analysis of genetic polymorphisms in the mitochondrial D‑loop may help identify the patient subgroups at a high risk of developing RCC.

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