Susceptibility to melanoma: Influence of skin type and polymorphism in the melanocyte stimulating hormone receptor gene

Fumiyo Ichii-Jones, John T. Lear, Adrian H M Heagerty, Andrew G. Smith, Peter E. Hutchinson, Joy Osborne, Bill Bowers, Peter W. Jones, Eric Davies, William E R Ollier, Wendy Thomson, Lillian Yengi, Joanna Bath, Anthony A. Fryer, Richard C. Strange

    Research output: Contribution to journalArticlepeer-review


    Allelic variation at the melanocyte stimulating hormone receptor (MC1R) gene has been linked with sun-sensitive skin types, suggesting it is a susceptibility candidate for melanoma. We determined the frequency of the va192met, asp294his, and asp84glu MC1R alleles in 190 Caucasian controls and 306 melanoma cases and studied their association with skin type and hair color. The percentage of controls with at least one va192met, asp294his, or asp84glu allele was 17.3%, 6.8%, and 3.5%, respectively. Individually, frequencies of the va192met, asp294his, or asp84glu alleles in the controls with skin types 3 and 4 were similar to those with skin types I and 2. Trend analysis, however, did identify an association (exact p = 0.048, two-sided test) between skin type and MC1R variants in the group comprising all controls with any one or more of these alleles. There was no association between MC1R alleles and hair color. Allele frequencies were not different in melanoma cases and controls. There were no associations between skin types and the proportion of cases with the asp294his or asp84glu alleles, though the association between skin type and the va192met allele approached significance (exact p = 0.09, two-sided test). Unexpectedly, in the group comprising all cases with one or more variant alleles, the proportion of subjects with variant alleles increased with skin types associated with tanning rather than burning, although trend analysis showed that this association did not quite reach statistical significance (exact p = 0.08, two-sided test). Asp84glu (but not va192met or asp294his) variant alleles were more common in subjects with blonde hair, although the relationship between the asp84glu allele and hair color did not achieve statistical significance (X23 = 6.16, exact p = 0.10). We interpret the data presented as indicating that polymorphism at MC1R does not appear a major determinant of skin type, at least in terms of these allelic variants. Furthermore, considered alone, these alleles are not susceptibility candidates for malignant melanoma.
    Original languageEnglish
    Pages (from-to)218-221
    Number of pages3
    JournalJournal of Investigative Dermatology
    Issue number2
    Publication statusPublished - 1998


    • Genetic predisposition
    • Ultraviolet light


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