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MC1R variants, melanoma and red hair color phenotype: a meta-analysis.
Int J Cancer 2008; 122(12):2753-60IJ

Abstract

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.

Authors+Show Affiliations

Division of Epidemiology and Biostatistics, European Institute of Oncology, Milan, Italy. sara.raimondi@ieo.itNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Meta-Analysis

Language

eng

PubMed ID

18366057

Citation

Raimondi, Sara, et al. "MC1R Variants, Melanoma and Red Hair Color Phenotype: a Meta-analysis." International Journal of Cancer, vol. 122, no. 12, 2008, pp. 2753-60.
Raimondi S, Sera F, Gandini S, et al. MC1R variants, melanoma and red hair color phenotype: a meta-analysis. Int J Cancer. 2008;122(12):2753-60.
Raimondi, S., Sera, F., Gandini, S., Iodice, S., Caini, S., Maisonneuve, P., & Fargnoli, M. C. (2008). MC1R variants, melanoma and red hair color phenotype: a meta-analysis. International Journal of Cancer, 122(12), pp. 2753-60. doi:10.1002/ijc.23396.
Raimondi S, et al. MC1R Variants, Melanoma and Red Hair Color Phenotype: a Meta-analysis. Int J Cancer. 2008 Jun 15;122(12):2753-60. PubMed PMID: 18366057.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - MC1R variants, melanoma and red hair color phenotype: a meta-analysis. AU - Raimondi,Sara, AU - Sera,Francesco, AU - Gandini,Sara, AU - Iodice,Simona, AU - Caini,Saverio, AU - Maisonneuve,Patrick, AU - Fargnoli,Maria Concetta, PY - 2008/3/28/pubmed PY - 2008/8/7/medline PY - 2008/3/28/entrez SP - 2753 EP - 60 JF - International journal of cancer JO - Int. J. Cancer VL - 122 IS - 12 N2 - 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. SN - 1097-0215 UR - https://www.unboundmedicine.com/medline/citation/18366057/MC1R_variants_melanoma_and_red_hair_color_phenotype:_a_meta_analysis_ L2 - https://doi.org/10.1002/ijc.23396 DB - PRIME DP - Unbound Medicine ER -