Single nucleotide polymorphisms in the mitochondrial displacement loop region predict malignant melanoma outcome: a study in Chinese Han population

Abstract

Background: Accumulation of single nucleotide polymorphisms (SNPs) in the displacement loop (D-loop) of mitochondrial DNA (mtDNA) has been identified to be associated with cancer risk and disease outcome. In this study, we investigated whether the SNPs in mitochondrial D-loop were associated with the outcome of malignant melanoma (MM) in Chinese Han population. Methods: The D-loop region of mtDNA was sequenced for 75 MM patients recorded in the Fourth Hospital of Hebei Medical University between 2003 and 2009. The 5-year survival curve were calculated with the Kaplan–Meier method and compared by the log-rank test at each SNP site, a multivariate survival analysis was also performed with the Cox proportional hazards method. Results: The SNP sites of nucleotides T204C, A235G and T16519C were identified for prediction of post-operational survival by the log-rank test. In an overall multivariate analysis, the T204C and A235G alleles were identified as independent predictors of MM outcome. Conclusion: Genetic polymorphisms in the D-loop are independent prognostic markers for patients with MM. Accordingly, the analysis of genetic polymorphisms in the mitochondrial D-loop can help identify patient subgroups at high risk of a poor disease outcome.

• D-loop
• malignant melanoma
• mtDNA
• SNP

Acknowledgements

We thank Professor Zhanjun Guo for technical assistance.

Declaration of interest

All the authors disclose no financial, consulting and personal relationships with other people or organizations that could influence the authors’ work.