Genetic Epidemiology, Psychiatric Genetics, Asthma 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
15373782
TITLE
Epidermal growth factor gene (EGF) polymorphism and risk of melanocytic neoplasia.
ABSTRACT
A common single nucleotide polymorphism (SNP) in the 5' untranslated region (5'UTR) of the epidermal growth factor (EGF) gene modulates the level of transcription of this gene and hence is associated with serum levels of EGF. This variant may be associated with melanoma risk, but conflicting findings have been reported. An Australian melanoma case-control sample was typed for the EGF+61A>G transversion (rs4444903). The sample comprised 753 melanoma cases from 738 families stratified by family history of melanoma and 2387 controls from 645 unselected twin families. Ancestry of the cases and controls was recorded, and the twins had undergone skin examination to assess total body nevus count, degree of freckling and pigmentation phenotype. SNP genotyping was carried out via primer extension followed by matrix-assisted laser desorption time of flight (MALDI-TOF) mass spectroscopy. The EGF+61 SNP was not found to be significantly associated with melanoma status or with development of nevi or freckles. Among melanoma cases, however, G homozygotes had thicker tumors (p=0.05), in keeping with two previous studies. The EGF polymorphism does not appear to predispose to melanoma or nevus development, but its significant association with tumor thickness implies that it may be a useful marker of prognosis.
DATE PUBLISHED
2004 Oct
HISTORY
PUBSTATUS PUBSTATUSDATE
pubmed 2004/09/18 05:00
medline 2004/11/09 09:00
entrez 2004/09/18 05:00
AUTHORS
NAME COLLECTIVENAME LASTNAME FORENAME INITIALS AFFILIATION AFFILIATIONINFO
James MR James Michael R MR Queensland Institute of Medical Research, Brisbane, Australia.
Hayward NK Hayward Nicholas K NK
Dumenil T Dumenil Troy T
Montgomery GW Montgomery Grant W GW
Martin NG Martin Nicholas G NG
Duffy DL Duffy David L DL
INVESTIGATORS
JOURNAL
VOLUME: 123
ISSUE: 4
TITLE: The Journal of investigative dermatology
ISOABBREVIATION: J. Invest. Dermatol.
YEAR: 2004
MONTH: Oct
DAY:
MEDLINEDATE:
SEASON:
CITEDMEDIUM: Print
ISSN: 0022-202X
ISSNTYPE: Print
MEDLINE JOURNAL
MEDLINETA: J Invest Dermatol
COUNTRY: United States
ISSNLINKING: 0022-202X
NLMUNIQUEID: 0426720
PUBLICATION TYPE
PUBLICATIONTYPE TEXT
Journal Article
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, P.H.S.
COMMENTS AND CORRECTIONS
REFTYPE REFSOURCE REFPMID NOTE
CommentIn J Invest Dermatol. 2004 Oct;123(4):xx-xxi 15373802
GRANTS
GRANTID AGENCY COUNTRY
CA88363 NCI NIH HHS United States
GENERAL NOTE
KEYWORDS
MESH HEADINGS
DESCRIPTORNAME QUALIFIERNAME
Case-Control Studies
Epidermal Growth Factor genetics
Gene Frequency genetics
Genetic Predisposition to Disease epidemiology
Genotype epidemiology
Humans epidemiology
Melanoma pathology
Melanosis genetics
Nevus genetics
Polymorphism, Genetic genetics
Prognosis genetics
Risk Factors genetics
Skin Neoplasms pathology
SUPPLEMENTARY MESH
GENE SYMBOLS
CHEMICALS
REGISTRYNUMBER NAMEOFSUBSTANCE
62229-50-9 Epidermal Growth Factor
OTHER ID's