MC1R variants, melanoma and red hair color phenotype: A meta-analysis
Version of Record online: 25 MAR 2008
Copyright © 2008 Wiley-Liss, Inc.
International Journal of Cancer
Volume 122, Issue 12, pages 2753–2760, 15 June 2008
How to Cite
Raimondi, S., Sera, F., Gandini, S., Iodice, S., Caini, S., Maisonneuve, P. and Fargnoli, M. C. (2008), MC1R variants, melanoma and red hair color phenotype: A meta-analysis. Int. J. Cancer, 122: 2753–2760. doi: 10.1002/ijc.23396
- Issue online: 9 APR 2008
- Version of Record online: 25 MAR 2008
- Manuscript Accepted: 30 NOV 2007
- Manuscript Received: 25 SEP 2007
- gene polymorphisms;
- cutaneous melanoma;
- skin cancer
Melanocortin-1-receptor (MC1R) is one of the major genes that determine skin pigmentation. MC1R variants were suggested to be associated with red hair, fair skin, and an increased risk of melanoma. We performed a meta-analysis on the association between the 9 most studied MC1R variants (p.V60L, p.D84E, p.V92M, p.R142H, p.R151C, p.I155T, p.R160W, p.R163Q and p.D294H) and melanoma and/or red hair, fair skin phenotype. Eleven studies on MC1R and melanoma, and 9 on MC1R and phenotype were included in the analysis. The 7 variants p.D84E, p.R142H, p.R151C, p.I155T, p.R160W, p. R163Q and p.D294H were significantly associated with melanoma development, with ORs (95%CI) ranging from 1.42 (1.09–1.85) for p.R163Q to 2.45 (1.32–4.55) for p.I155T. The MC1R variants p.R160W and p.D294H were associated both with red hair and fair skin, while p.D84E, p.R142H, and p.R151C were strongly associated with red hair only- ORs (95%CI) ranged from 2.99 (1.51–5.91) for p.D84E to 8.10 (5.82–11.28) for p.R151C. No association with melanoma or phenotype was found for p.V60L and p.V92M variants. In conclusion this meta-analysis provided evidence that some MC1R variants are associated both with melanoma and phenotype, while other are only associated with melanoma development. These results suggest that MC1R variants could play a role in melanoma development both via pigmentary and non-pigmentary pathways. © 2008 Wiley-Liss, Inc.