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
20602913
TITLE
IRF4 variants have age-specific effects on nevus count and predispose to melanoma.
ABSTRACT
High melanocytic nevus count is a strong predictor of melanoma risk. A GWAS of nevus count in Australian adolescent twins identified an association of nevus count with the interferon regulatory factor 4 gene (IRF4 [p = 6 x 10(-9)]). There was a strong genotype-by-age interaction, which was replicated in independent UK samples of adolescents and adults. The rs12203592(*)T allele was associated with high nevus counts and high freckling scores in adolescents, but with low nevus counts and high freckling scores in adults. The rs12203592(*)T increased counts of flat (compound and junctional) nevi in Australian adolescent twins, but decreased counts of raised (intradermal) nevi. In combined analysis of melanoma case-control data from Australia, the UK, and Sweden, the rs12203592(*)C allele was associated with melanoma (odds ratio [OR] 1.15, p = 4 x 10(-3)), most significantly on the trunk (OR = 1.33, p = 2.5 x 10(-5)). The melanoma association was corroborated in a GWAS performed by the GenoMEL consortium for an adjacent SNP, rs872071 (rs872071(*)T: OR 1.14, p = 0.0035; excluding Australian, the UK, and Swedish samples typed at rs12203592: OR 1.08, p = 0.08).
Copyright 2010 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.
DATE PUBLISHED
2010 Jul 9
HISTORY
PUBSTATUS PUBSTATUSDATE
received 2010/01/12
revised 2010/04/30
accepted 2010/05/21
aheadofprint 2010/06/17
entrez 2010/07/07 06:00
pubmed 2010/07/07 06:00
medline 2010/07/29 06:00
AUTHORS
NAME COLLECTIVENAME LASTNAME FORENAME INITIALS AFFILIATION AFFILIATIONINFO
Duffy DL Duffy David L DL Queensland Institute of Medical Research, Brisbane 4029, Australia.
Iles MM Iles Mark M MM
Glass D Glass Dan D
Zhu G Zhu Gu G
Barrett JH Barrett Jennifer H JH
Höiom V Höiom Veronica V
Zhao ZZ Zhao Zhen Z ZZ
Sturm RA Sturm Richard A RA
Soranzo N Soranzo Nicole N
Hammond C Hammond Chris C
Kvaskoff M Kvaskoff Marina M
Whiteman DC Whiteman David C DC
Mangino M Mangino Massimo M
Hansson J Hansson Johan J
Newton-Bishop JA Newton-Bishop Julia A JA
GenoMEL
Bataille V Bataille Veronique V
Hayward NK Hayward Nicholas K NK
Martin NG Martin Nicholas G NG
Bishop DT Bishop D Timothy DT
Spector TD Spector Timothy D TD
Montgomery GW Montgomery Grant W GW
INVESTIGATORS
JOURNAL
VOLUME: 87
ISSUE: 1
TITLE: American journal of human genetics
ISOABBREVIATION: Am. J. Hum. Genet.
YEAR: 2010
MONTH: Jul
DAY: 9
MEDLINEDATE:
SEASON:
CITEDMEDIUM: Internet
ISSN: 1537-6605
ISSNTYPE: Electronic
MEDLINE JOURNAL
MEDLINETA: Am J Hum Genet
COUNTRY: United States
ISSNLINKING: 0002-9297
NLMUNIQUEID: 0370475
PUBLICATION TYPE
PUBLICATIONTYPE TEXT
Journal Article
Multicenter Study
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Twin Study
COMMENTS AND CORRECTIONS
REFTYPE REFSOURCE REFPMID NOTE
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GRANTS
GRANTID AGENCY COUNTRY
10589 Cancer Research UK United Kingdom
10721 Cancer Research UK United Kingdom
C588/A10721 Cancer Research UK United Kingdom
C588/A499 Cancer Research UK United Kingdom
C8216/A6129 Cancer Research UK United Kingdom
CA88363 NCI NIH HHS United States
G0900339 Medical Research Council United Kingdom
R01 CA83115. NCI NIH HHS United States
R01 CA83115 NCI NIH HHS United States
GENERAL NOTE
KEYWORDS
MESH HEADINGS
DESCRIPTORNAME QUALIFIERNAME
Adolescent
Adult
Age Factors
Aged
Aged, 80 and over
Case-Control Studies
Child
Cyclin-Dependent Kinase Inhibitor p16 genetics
Female genetics
Genetic Predisposition to Disease genetics
Genome-Wide Association Study genetics
Humans genetics
Interferon Regulatory Factors genetics
Male genetics
Melanoma genetics
Middle Aged genetics
Nevus genetics
Polymorphism, Single Nucleotide genetics
Skin Neoplasms genetics
Young Adult genetics
SUPPLEMENTARY MESH
GENE SYMBOLS
CHEMICALS
REGISTRYNUMBER NAMEOFSUBSTANCE
0 Cyclin-Dependent Kinase Inhibitor p16
0 Interferon Regulatory Factors
0 interferon regulatory factor-4
OTHER ID's
OTHERID SOURCE
PMC2896771 NLM