Document Detail


Melanocortin-1 receptor genotype is a risk factor for basal and squamous cell carcinoma.
MedLine Citation:
PMID:  11179997     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
MC1R gene variants have previously been associated with red hair and fair skin color, moreover skin ultraviolet sensitivity and a strong association with melanoma has been demonstrated for three variant alleles that are active in influencing pigmentation: Arg151Cys, Arg160Trp, and Asp294His. This study has confirmed these pigmentary associations with MC1R genotype in a collection of 220 individuals drawn from the Nambour community in Queensland, Australia, 111 of whom were at high risk and 109 at low risk of basal cell carcinoma and squamous cell carcinoma. Comparative allele frequencies for nine MC1R variants that have been reported in the Caucasian population were determined for these two groups, and an association between prevalence of basal cell carcinoma, squamous cell carcinoma, solar keratosis and the same three active MC1R variant alleles was demonstrated [odds ratio = 3.15 95% CI (1.7, 5.82)]. Three other commonly occurring variant alleles: Val60Leu, Val92Met, and Arg163Gln were identified as having a minimal impact on pigmentation phenotype as well as basal cell carcinoma and squamous cell carcinoma risk. A significant heterozygote effect was demonstrated where individuals carrying a single MC1R variant allele were more likely to have fair and sun sensitive skin as well as carriage of a solar lesion when compared with those individuals with a consensus MC1R genotype. After adjusting for the effects of pigmentation on the association between MC1R variant alleles and basal cell carcinoma and squamous cell carcinoma risk, the association persisted, confirming that presence of at least one variant allele remains informative in terms of predicting risk for developing a solar-induced skin lesion beyond that information wained through observation of pigmentation phenotype.
Authors:
N F Box; D L Duffy; R E Irving; A Russell; W Chen; L R Griffyths; P G Parsons; A C Green; R A Sturm
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  The Journal of investigative dermatology     Volume:  116     ISSN:  0022-202X     ISO Abbreviation:  J. Invest. Dermatol.     Publication Date:  2001 Feb 
Date Detail:
Created Date:  2001-02-22     Completed Date:  2001-04-19     Revised Date:  2008-11-21    
Medline Journal Info:
Nlm Unique ID:  0426720     Medline TA:  J Invest Dermatol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  224-9     Citation Subset:  IM    
Affiliation:
Center for Functional and Applied Genomics, Institute for Molecular Bioscience, University of Queensland, Brisbane, Queensland 4072, Australia.
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MeSH Terms
Descriptor/Qualifier:
Alleles
Carcinoma, Basal Cell / epidemiology,  genetics*
Carcinoma, Squamous Cell / epidemiology,  genetics*
Genetic Variation / genetics
Genotype
Humans
Phenotype
Queensland / epidemiology
Receptors, Corticotropin / genetics*
Receptors, Melanocortin
Risk Factors
Skin Neoplasms / epidemiology,  genetics*
Skin Pigmentation / genetics,  radiation effects
Ultraviolet Rays
Chemical
Reg. No./Substance:
0/Receptors, Corticotropin; 0/Receptors, Melanocortin

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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