Mitochondrial DNA Copy Number in Peripheral Blood and Melanoma Risk

• Published in: PloS one Vol. 10; no. 6; p. e0131649
• Main Authors: Shen, Jie, Gopalakrishnan, Vancheswaran, Lee, Jeffrey E., Fang, Shenying, Zhao, Hua
• Format: Journal Article
• Language: English
• Published: United States Public Library of Science 25.06.2015; Public Library of Science (PLoS)
• Subjects: Aged; Biomarkers - blood; Blood; Cancer; Carcinogenesis; Case-Control Studies; Confidence intervals; Copy number; Deoxyribonucleic acid; DNA; DNA - analysis; DNA Copy Number Variations - genetics; DNA, Mitochondrial - blood; DNA, Mitochondrial - genetics; Exposure; Female; Gene Dosage; Health risk assessment; Health risks; Humans; Male; Melanocytes - cytology; Melanoma; Melanoma - blood; Melanoma - genetics; Middle Aged; Mitochondrial DNA; Peripheral blood; Pigmentation; Polymerase chain reaction; Real-Time Polymerase Chain Reaction; Risk analysis; Risk Factors; Skin cancer; Skin Neoplasms - blood; Skin Neoplasms - genetics; Skin Pigmentation; Studies; Sunlight; United States > US
• ISSN: 1932-6203; 1932-6203
• DOI: 10.1371/journal.pone.0131649

Mitochondrial DNA (mtDNA) copy number in peripheral blood has been suggested as risk modifier in various types of cancer. However, its influence on melanoma risk is unclear. We evaluated the association between mtDNA copy number in peripheral blood and melanoma risk in 500 melanoma cases and 500 healthy controls from an ongoing melanoma study. The mtDNA copy number was measured using real-time polymerase chain reaction. Overall, mean mtDNA copy number was significantly higher in cases than in controls (1.15 vs 0.99, P<0.001). Increased mtDNA copy number was associated with a 1.45-fold increased risk of melanoma (95% confidence interval: 1.12-1.97). Significant joint effects between mtDNA copy number and variables related to pigmentation and history of sunlight exposure were observed. This study supports an association between increased mtDNA copy number and melanoma risk that is independent on the known melanoma risk factors (pigmentation and history of sunlight exposure).