AustralieFrV1, Main, Exploration, bibRecord, 007809

IRF4 Variants Have Age-Specific Effects on Nevus Count and Predispose to Melanoma

Identifieur interne : 007809 ( Main/Exploration ); précédent : 007808; suivant : 007810

IRF4 Variants Have Age-Specific Effects on Nevus Count and Predispose to Melanoma

Auteurs : David L. Duffy [Australie] ; Mark M. Iles [Royaume-Uni] ; Dan Glass [Royaume-Uni] ; GU ZHU [Australie] ; Jennifer H. Barrett [Royaume-Uni] ; Veronica Höiom [Suède] ; Zhen Z. Zhao [Australie] ; Richard A. Sturm [Australie] ; Nicole Soranzo [Royaume-Uni] ; Chris Hammond [Royaume-Uni] ; Marina Kvaskoff [Australie, France] ; David C. Whiteman [Australie] ; Massimo Mangino [Royaume-Uni] ; Johan Hansson [Suède] ; Julia A. Newton-Bishop [Royaume-Uni] ; Veronique Bataille [Royaume-Uni] ; Nicholas K. Hayward [Australie] ; Nicholas G. Martin [Australie] ; D. Timothy Bishop [Royaume-Uni] ; Timothy D. Spector [Royaume-Uni] ; Grant W. Montgomery [Australie]

Source :

American journal of human genetics [ 0002-9297 ] ; 2010.

RBID : Pascal:10-0356792

Descripteurs français

Pascal (Inist)
- Naevus, Mélanome malin, Variant, Age, Génétique, Homme.
Wicri :
- topic : Génétique, Homme.

English descriptors

KwdEn :
- Age, Genetics, Human, Malignant melanoma, Nevus, Variant.

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 × 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 × 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).

Affiliations:

Links toward previous steps (curation, corpus...)

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to stream PascalFrancis, to step Curation: 003A95
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Le document en format XML

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</affiliation>
</author>
<author><name sortKey="Zhao, Zhen Z" sort="Zhao, Zhen Z" uniqKey="Zhao Z" first="Zhen Z." last="Zhao">Zhen Z. Zhao</name>
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<s3>AUS</s3>
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<country>Australie</country>
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</affiliation>
</author>
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<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>The University of Queensland, Melanogenix Group, Institute of Molecular Bioscience</s1>
<s2>Brisbane 4072</s2>
<s3>AUS</s3>
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</inist:fA14>
<country>Australie</country>
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</affiliation>
</author>
<author><name sortKey="Soranzo, Nicole" sort="Soranzo, Nicole" uniqKey="Soranzo N" first="Nicole" last="Soranzo">Nicole Soranzo</name>
<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Department of Twin Research & Genetic Epidemiology, St Thomas Hospital Campus, Kings College</s1>
<s2>London SE1 7EH</s2>
<s3>GBR</s3>
<sZ>3 aut.</sZ>
<sZ>9 aut.</sZ>
<sZ>10 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>16 aut.</sZ>
<sZ>20 aut.</sZ>
</inist:fA14>
<country>Royaume-Uni</country>
<wicri:noRegion>London SE1 7EH</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Hammond, Chris" sort="Hammond, Chris" uniqKey="Hammond C" first="Chris" last="Hammond">Chris Hammond</name>
<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Department of Twin Research & Genetic Epidemiology, St Thomas Hospital Campus, Kings College</s1>
<s2>London SE1 7EH</s2>
<s3>GBR</s3>
<sZ>3 aut.</sZ>
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<country>Royaume-Uni</country>
<wicri:noRegion>London SE1 7EH</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Kvaskoff, Marina" sort="Kvaskoff, Marina" uniqKey="Kvaskoff M" first="Marina" last="Kvaskoff">Marina Kvaskoff</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Queensland Institute of Medical Research</s1>
<s2>Brisbane 4029</s2>
<s3>AUS</s3>
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</inist:fA14>
<country>Australie</country>
<wicri:noRegion>Queensland Institute of Medical Research</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="06"><s1>INSERM, (Institut National de la Santé et de la Recherche Médicale), ERI 20, EA 4045</s1>
<s2>75654 Paris</s2>
<s3>FRA</s3>
<sZ>11 aut.</sZ>
</inist:fA14>
<country>France</country>
<wicri:noRegion>75654 Paris</wicri:noRegion>
<placeName><settlement type="city">Paris</settlement>
<region type="région" nuts="2">Île-de-France</region>
</placeName>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="07"><s1>Institut Gustave Roussy</s1>
<s2>Villejuif, 94805</s2>
<s3>FRA</s3>
<sZ>11 aut.</sZ>
</inist:fA14>
<country>France</country>
<wicri:noRegion>94805</wicri:noRegion>
<wicri:noRegion>Institut Gustave Roussy</wicri:noRegion>
<wicri:noRegion>Institut Gustave Roussy</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Whiteman, David C" sort="Whiteman, David C" uniqKey="Whiteman D" first="David C." last="Whiteman">David C. Whiteman</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Queensland Institute of Medical Research</s1>
<s2>Brisbane 4029</s2>
<s3>AUS</s3>
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<country>Australie</country>
<wicri:noRegion>Queensland Institute of Medical Research</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Mangino, Massimo" sort="Mangino, Massimo" uniqKey="Mangino M" first="Massimo" last="Mangino">Massimo Mangino</name>
<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Department of Twin Research & Genetic Epidemiology, St Thomas Hospital Campus, Kings College</s1>
<s2>London SE1 7EH</s2>
<s3>GBR</s3>
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<country>Royaume-Uni</country>
<wicri:noRegion>London SE1 7EH</wicri:noRegion>
</affiliation>
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<author><name sortKey="Hansson, Johan" sort="Hansson, Johan" uniqKey="Hansson J" first="Johan" last="Hansson">Johan Hansson</name>
<affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Department of Oncology-Pathology, Karolinska Institutet, Karolinska University Hospital Solna</s1>
<s2>171 76 Stockholm</s2>
<s3>SWE</s3>
<sZ>6 aut.</sZ>
<sZ>14 aut.</sZ>
</inist:fA14>
<country>Suède</country>
<wicri:noRegion>171 76 Stockholm</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Newton Bishop, Julia A" sort="Newton Bishop, Julia A" uniqKey="Newton Bishop J" first="Julia A." last="Newton-Bishop">Julia A. Newton-Bishop</name>
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<country>Royaume-Uni</country>
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<author><name sortKey="Bataille, Veronique" sort="Bataille, Veronique" uniqKey="Bataille V" first="Veronique" last="Bataille">Veronique Bataille</name>
<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Department of Twin Research & Genetic Epidemiology, St Thomas Hospital Campus, Kings College</s1>
<s2>London SE1 7EH</s2>
<s3>GBR</s3>
<sZ>3 aut.</sZ>
<sZ>9 aut.</sZ>
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<country>Royaume-Uni</country>
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</author>
<author><name sortKey="Hayward, Nicholas K" sort="Hayward, Nicholas K" uniqKey="Hayward N" first="Nicholas K." last="Hayward">Nicholas K. Hayward</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Queensland Institute of Medical Research</s1>
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<author><name sortKey="Martin, Nicholas G" sort="Martin, Nicholas G" uniqKey="Martin N" first="Nicholas G." last="Martin">Nicholas G. Martin</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Queensland Institute of Medical Research</s1>
<s2>Brisbane 4029</s2>
<s3>AUS</s3>
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<country>Australie</country>
<wicri:noRegion>Queensland Institute of Medical Research</wicri:noRegion>
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<author><name sortKey="Bishop, D Timothy" sort="Bishop, D Timothy" uniqKey="Bishop D" first="D. Timothy" last="Bishop">D. Timothy Bishop</name>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Section of Epidemiology and Biostatistics, Leeds Institute of Molecular Medicine, Cancer Research UK Clinical Centre at Leeds, St James's University Hospital</s1>
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<country>Royaume-Uni</country>
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</affiliation>
</author>
<author><name sortKey="Spector, Timothy D" sort="Spector, Timothy D" uniqKey="Spector T" first="Timothy D." last="Spector">Timothy D. Spector</name>
<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Department of Twin Research & Genetic Epidemiology, St Thomas Hospital Campus, Kings College</s1>
<s2>London SE1 7EH</s2>
<s3>GBR</s3>
<sZ>3 aut.</sZ>
<sZ>9 aut.</sZ>
<sZ>10 aut.</sZ>
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<country>Royaume-Uni</country>
<wicri:noRegion>London SE1 7EH</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Montgomery, Grant W" sort="Montgomery, Grant W" uniqKey="Montgomery G" first="Grant W." last="Montgomery">Grant W. Montgomery</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Queensland Institute of Medical Research</s1>
<s2>Brisbane 4029</s2>
<s3>AUS</s3>
<sZ>1 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>11 aut.</sZ>
<sZ>12 aut.</sZ>
<sZ>17 aut.</sZ>
<sZ>18 aut.</sZ>
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<country>Australie</country>
<wicri:noRegion>Queensland Institute of Medical Research</wicri:noRegion>
</affiliation>
</author>
</analytic>
<series><title level="j" type="main">American journal of human genetics</title>
<title level="j" type="abbreviated">Am. j. hum. genet.</title>
<idno type="ISSN">0002-9297</idno>
<imprint><date when="2010">2010</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
<seriesStmt><title level="j" type="main">American journal of human genetics</title>
<title level="j" type="abbreviated">Am. j. hum. genet.</title>
<idno type="ISSN">0002-9297</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Age</term>
<term>Genetics</term>
<term>Human</term>
<term>Malignant melanoma</term>
<term>Nevus</term>
<term>Variant</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Naevus</term>
<term>Mélanome malin</term>
<term>Variant</term>
<term>Age</term>
<term>Génétique</term>
<term>Homme</term>
</keywords>
<keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Génétique</term>
<term>Homme</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">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 × 10<sup>-9</sup>
]). There was a strong genotype-by-age interaction, which was replicated in independent UK samples of adolescents and adults. The rs12203592*<sup>T</sup>
 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<sup>*</sup>
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<sup>*</sup>
C allele was associated with melanoma (odds ratio [OR] 1.15, p = 4 x 10<sup>-3</sup>
), most significantly on the trunk (OR = 1.33, p = 2.5 × 10<sup>-5</sup>
). The melanoma association was corroborated in a GWAS performed by the GenoMEL consortium for an adjacent SNP, rs872071 (rs872071<sup>*</sup>
T: OR 1.14, p = 0.0035; excluding Australian, the UK, and Swedish samples typed at rs12203592: OR 1.08, p = 0.08).</div>
</front>
</TEI>
<affiliations><list><country><li>Australie</li>
<li>France</li>
<li>Royaume-Uni</li>
<li>Suède</li>
</country>
<region><li>Île-de-France</li>
</region>
<settlement><li>Paris</li>
</settlement>
</list>
<tree><country name="Australie"><noRegion><name sortKey="Duffy, David L" sort="Duffy, David L" uniqKey="Duffy D" first="David L." last="Duffy">David L. Duffy</name>
</noRegion>
<name sortKey="Gu Zhu" sort="Gu Zhu" uniqKey="Gu Zhu" last="Gu Zhu">GU ZHU</name>
<name sortKey="Hayward, Nicholas K" sort="Hayward, Nicholas K" uniqKey="Hayward N" first="Nicholas K." last="Hayward">Nicholas K. Hayward</name>
<name sortKey="Kvaskoff, Marina" sort="Kvaskoff, Marina" uniqKey="Kvaskoff M" first="Marina" last="Kvaskoff">Marina Kvaskoff</name>
<name sortKey="Martin, Nicholas G" sort="Martin, Nicholas G" uniqKey="Martin N" first="Nicholas G." last="Martin">Nicholas G. Martin</name>
<name sortKey="Montgomery, Grant W" sort="Montgomery, Grant W" uniqKey="Montgomery G" first="Grant W." last="Montgomery">Grant W. Montgomery</name>
<name sortKey="Sturm, Richard A" sort="Sturm, Richard A" uniqKey="Sturm R" first="Richard A." last="Sturm">Richard A. Sturm</name>
<name sortKey="Whiteman, David C" sort="Whiteman, David C" uniqKey="Whiteman D" first="David C." last="Whiteman">David C. Whiteman</name>
<name sortKey="Zhao, Zhen Z" sort="Zhao, Zhen Z" uniqKey="Zhao Z" first="Zhen Z." last="Zhao">Zhen Z. Zhao</name>
</country>
<country name="Royaume-Uni"><noRegion><name sortKey="Iles, Mark M" sort="Iles, Mark M" uniqKey="Iles M" first="Mark M." last="Iles">Mark M. Iles</name>
</noRegion>
<name sortKey="Barrett, Jennifer H" sort="Barrett, Jennifer H" uniqKey="Barrett J" first="Jennifer H." last="Barrett">Jennifer H. Barrett</name>
<name sortKey="Bataille, Veronique" sort="Bataille, Veronique" uniqKey="Bataille V" first="Veronique" last="Bataille">Veronique Bataille</name>
<name sortKey="Bishop, D Timothy" sort="Bishop, D Timothy" uniqKey="Bishop D" first="D. Timothy" last="Bishop">D. Timothy Bishop</name>
<name sortKey="Glass, Dan" sort="Glass, Dan" uniqKey="Glass D" first="Dan" last="Glass">Dan Glass</name>
<name sortKey="Hammond, Chris" sort="Hammond, Chris" uniqKey="Hammond C" first="Chris" last="Hammond">Chris Hammond</name>
<name sortKey="Mangino, Massimo" sort="Mangino, Massimo" uniqKey="Mangino M" first="Massimo" last="Mangino">Massimo Mangino</name>
<name sortKey="Newton Bishop, Julia A" sort="Newton Bishop, Julia A" uniqKey="Newton Bishop J" first="Julia A." last="Newton-Bishop">Julia A. Newton-Bishop</name>
<name sortKey="Soranzo, Nicole" sort="Soranzo, Nicole" uniqKey="Soranzo N" first="Nicole" last="Soranzo">Nicole Soranzo</name>
<name sortKey="Spector, Timothy D" sort="Spector, Timothy D" uniqKey="Spector T" first="Timothy D." last="Spector">Timothy D. Spector</name>
</country>
<country name="Suède"><noRegion><name sortKey="Hoiom, Veronica" sort="Hoiom, Veronica" uniqKey="Hoiom V" first="Veronica" last="Höiom">Veronica Höiom</name>
</noRegion>
<name sortKey="Hansson, Johan" sort="Hansson, Johan" uniqKey="Hansson J" first="Johan" last="Hansson">Johan Hansson</name>
</country>
<country name="France"><region name="Île-de-France"><name sortKey="Kvaskoff, Marina" sort="Kvaskoff, Marina" uniqKey="Kvaskoff M" first="Marina" last="Kvaskoff">Marina Kvaskoff</name>
</region>
<name sortKey="Kvaskoff, Marina" sort="Kvaskoff, Marina" uniqKey="Kvaskoff M" first="Marina" last="Kvaskoff">Marina Kvaskoff</name>
</country>
</tree>
</affiliations>
</record>

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	Serveur d'exploration sur les relations entre la France et l'Australie
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IRF4 Variants Have Age-Specific Effects on Nevus Count and Predispose to Melanoma

IRF4 Variants Have Age-Specific Effects on Nevus Count and Predispose to Melanoma

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