Document Detail

MC1R variants, melanoma and red hair color phenotype: a meta-analysis.
MedLine Citation:
PMID:  18366057     Owner:  NLM     Status:  MEDLINE    
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.
Sara Raimondi; Francesco Sera; Sara Gandini; Simona Iodice; Saverio Caini; Patrick Maisonneuve; Maria Concetta Fargnoli
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Publication Detail:
Type:  Journal Article; Meta-Analysis    
Journal Detail:
Title:  International journal of cancer. Journal international du cancer     Volume:  122     ISSN:  1097-0215     ISO Abbreviation:  Int. J. Cancer     Publication Date:  2008 Jun 
Date Detail:
Created Date:  2008-04-16     Completed Date:  2008-08-06     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0042124     Medline TA:  Int J Cancer     Country:  United States    
Other Details:
Languages:  eng     Pagination:  2753-60     Citation Subset:  IM    
Copyright Information:
(c) 2008 Wiley-Liss, Inc.
Division of Epidemiology and Biostatistics, European Institute of Oncology, Milan, Italy.
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MeSH Terms
Genetic Heterogeneity
Hair Color*
Melanoma / epidemiology,  genetics*
Receptor, Melanocortin, Type 1 / genetics*
Reg. No./Substance:
0/Receptor, Melanocortin, Type 1

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