Genetic Epidemiology, Translational Neurogenomics, Psychiatric Genetics and Statistical Genetics Laboratories investigate the pattern of disease in families, particularly identical and non-identical twins, to assess the relative importance of genes and environment in a variety of important health problems.
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PMID
10631149
TITLE
Melanocortin-1 receptor polymorphisms and risk of melanoma: is the association explained solely by pigmentation phenotype?
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.
DATE PUBLISHED
2000 Jan
HISTORY
PUBSTATUS PUBSTATUSDATE
pubmed 2000/01/13 09:00
medline 2000/03/21 09:00
entrez 2000/01/13 09:00
AUTHORS
NAME COLLECTIVENAME LASTNAME FORENAME INITIALS AFFILIATION AFFILIATIONINFO
Palmer JS Palmer J S JS Centre for Molecular and Cellular Biology and Queensland Institute of Medical Research and Joint Genetics Program, University of Queensland, Brisbane, QLD 4072, Australia.
Duffy DL Duffy D L DL
Box NF Box N F NF
Aitken JF Aitken J F JF
O'Gorman LE O'Gorman L E LE
Green AC Green A C AC
Hayward NK Hayward N K NK
Martin NG Martin N G NG
Sturm RA Sturm R A RA
INVESTIGATORS
JOURNAL
VOLUME: 66
ISSUE: 1
TITLE: American journal of human genetics
ISOABBREVIATION: Am. J. Hum. Genet.
YEAR: 2000
MONTH: Jan
DAY:
MEDLINEDATE:
SEASON:
CITEDMEDIUM: Print
ISSN: 0002-9297
ISSNTYPE: Print
MEDLINE JOURNAL
MEDLINETA: Am J Hum Genet
COUNTRY: United States
ISSNLINKING: 0002-9297
NLMUNIQUEID: 0370475
PUBLICATION TYPE
PUBLICATIONTYPE TEXT
Journal Article
Research Support, Non-U.S. Gov't
COMMENTS AND CORRECTIONS
REFTYPE REFSOURCE REFPMID NOTE
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GRANTS
GENERAL NOTE
KEYWORDS
MESH HEADINGS
DESCRIPTORNAME QUALIFIERNAME
Data Interpretation, Statistical
European Continental Ancestry Group genetics
Eye Color genetics
Female genetics
Genetic Variation genetics
Genotype genetics
Hair Color genetics
Humans genetics
Linkage Disequilibrium genetics
Male genetics
Melanoma genetics
Phenotype genetics
Pigmentation genetics
Polymerase Chain Reaction genetics
Polymorphism, Genetic genetics
Receptors, Corticotropin genetics
Receptors, Melanocortin genetics
Risk Factors genetics
Skin Pigmentation genetics
SUPPLEMENTARY MESH
GENE SYMBOLS
CHEMICALS
REGISTRYNUMBER NAMEOFSUBSTANCE
0 Receptors, Corticotropin
0 Receptors, Melanocortin
OTHER ID's
OTHERID SOURCE
PMC1288324 NLM
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