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Melanocortin-1 receptor polymorphisms and risk of melanoma: is the association explained solely by pigmentation phenotype?
Am J Hum Genet 2000; 66(1):176-86AJ

Abstract

Risk of cutaneous malignant melanoma (CMM) is increased in sun-exposed whites, particularly those with a pale complexion. This study was designed to investigate the relationship of the melanocortin-1 receptor (MC1R) genotype to CMM risk, controlled for pigmentation phenotype. We report the occurrence of five common MC1R variants in an Australian population-based sample of 460 individuals with familial and sporadic CMM and 399 control individuals-and their relationship to such other risk factors as skin, hair, and eye color; freckling; and nevus count. There was a strong relationship between MC1R variants and hair color and skin type. Moreover, MC1R variants were found in 72% of the individuals with CMM, whereas only 56% of the control individuals carried at least one variant (P<.001), a finding independent of strength of family history of melanoma. Three active alleles (Arg151Cys, Arg160Trp, and Asp294His), previously associated with red hair, doubled CMM risk for each additional allele carried (odds ratio 2.0; 95% confidence interval 1. 6-2.6). No such independent association could be demonstrated with the Val60Leu and Asp84Glu variants. Among pale-skinned individuals alone, this association between CMM and MC1R variants was absent, but it persisted among those reporting a medium or olive/dark complexion. We conclude that the effect that MC1R variant alleles have on CMM is partly mediated via determination of pigmentation phenotype and that these alleles may also negate the protection normally afforded by darker skin coloring in some members of this white population.

Authors+Show Affiliations

Centre for Molecular and Cellular Biology and Queensland Institute of Medical Research and Joint Genetics Program, University of Queensland, Brisbane, QLD 4072, Australia.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

10631149

Citation

Palmer, J S., et al. "Melanocortin-1 Receptor Polymorphisms and Risk of Melanoma: Is the Association Explained Solely By Pigmentation Phenotype?" American Journal of Human Genetics, vol. 66, no. 1, 2000, pp. 176-86.
Palmer JS, Duffy DL, Box NF, et al. Melanocortin-1 receptor polymorphisms and risk of melanoma: is the association explained solely by pigmentation phenotype? Am J Hum Genet. 2000;66(1):176-86.
Palmer, J. S., Duffy, D. L., Box, N. F., Aitken, J. F., O'Gorman, L. E., Green, A. C., ... Sturm, R. A. (2000). Melanocortin-1 receptor polymorphisms and risk of melanoma: is the association explained solely by pigmentation phenotype? American Journal of Human Genetics, 66(1), pp. 176-86.
Palmer JS, et al. Melanocortin-1 Receptor Polymorphisms and Risk of Melanoma: Is the Association Explained Solely By Pigmentation Phenotype. Am J Hum Genet. 2000;66(1):176-86. PubMed PMID: 10631149.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Melanocortin-1 receptor polymorphisms and risk of melanoma: is the association explained solely by pigmentation phenotype? AU - Palmer,J S, AU - Duffy,D L, AU - Box,N F, AU - Aitken,J F, AU - O'Gorman,L E, AU - Green,A C, AU - Hayward,N K, AU - Martin,N G, AU - Sturm,R A, PY - 2000/1/13/pubmed PY - 2000/3/21/medline PY - 2000/1/13/entrez SP - 176 EP - 86 JF - American journal of human genetics JO - Am. J. Hum. Genet. VL - 66 IS - 1 N2 - Risk of cutaneous malignant melanoma (CMM) is increased in sun-exposed whites, particularly those with a pale complexion. This study was designed to investigate the relationship of the melanocortin-1 receptor (MC1R) genotype to CMM risk, controlled for pigmentation phenotype. We report the occurrence of five common MC1R variants in an Australian population-based sample of 460 individuals with familial and sporadic CMM and 399 control individuals-and their relationship to such other risk factors as skin, hair, and eye color; freckling; and nevus count. There was a strong relationship between MC1R variants and hair color and skin type. Moreover, MC1R variants were found in 72% of the individuals with CMM, whereas only 56% of the control individuals carried at least one variant (P<.001), a finding independent of strength of family history of melanoma. Three active alleles (Arg151Cys, Arg160Trp, and Asp294His), previously associated with red hair, doubled CMM risk for each additional allele carried (odds ratio 2.0; 95% confidence interval 1. 6-2.6). No such independent association could be demonstrated with the Val60Leu and Asp84Glu variants. Among pale-skinned individuals alone, this association between CMM and MC1R variants was absent, but it persisted among those reporting a medium or olive/dark complexion. We conclude that the effect that MC1R variant alleles have on CMM is partly mediated via determination of pigmentation phenotype and that these alleles may also negate the protection normally afforded by darker skin coloring in some members of this white population. SN - 0002-9297 UR - https://www.unboundmedicine.com/medline/citation/10631149/Melanocortin_1_receptor_polymorphisms_and_risk_of_melanoma:_is_the_association_explained_solely_by_pigmentation_phenotype L2 - https://linkinghub.elsevier.com/retrieve/pii/S0002-9297(07)62245-9 DB - PRIME DP - Unbound Medicine ER -