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

Abstract

Accumulation of single nucleotide polymorphisms (SNPs) in the displacement loop (D-loop) of mitochondrial DNA (mtDNA) may be associated with an increased cancer risk. We investigated the malignant melanoma (MM) risk profile of D-loop SNPs in a case-controlled study in Chinese Han population. A statistically significant increase in SNP frequency for the T16362C, A16399G and T195C alleles was observed in MM patients (p < 0.05) comparing the MM patients to controls, which indicted that the patients who carry these alleles were susceptible to MM. The study identified SNPs in the mitochondrial D-loop could increase MM risk in Chinese Han people. The analysis of genetic polymorphisms in the mitochondrial D-loop can help identify subgroups of patients who are at a higher risk of developing MM in Chinese Han population, thereby helping to make therapeutic decisions for these patients.

• D-loop
• malignant melanoma
• mtDNA
• SNP

Acknowledgements

We thank Mr Zhenxing Li for technical assistance.

Declaration of interest

All of the authors disclose any financial, consulting and personal relationships with other people or organizations that could influence the author’s work.