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

Identifieur interne : 007038 ( Main/Exploration ); précédent : 007037; suivant : 007039

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 :

RBID : PMC:2896771

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 rs12203592T 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 rs12203592T 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 rs12203592C allele was associated with melanoma (odds ratio [OR] 1.15, p = 4 × 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 (rs872071T: OR 1.14, p = 0.0035; excluding Australian, the UK, and Swedish samples typed at rs12203592: OR 1.08, p = 0.08).


Url:
DOI: 10.1016/j.ajhg.2010.05.017
PubMed: 20602913
PubMed Central: 2896771


Affiliations:


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


Le document en format XML

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Variants Have Age-Specific Effects on Nevus Count and Predispose to Melanoma</title>
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<wicri:regionArea>Department of Twin Research & Genetic Epidemiology, St Thomas Hospital Campus, Kings College, London SE1 7EH</wicri:regionArea>
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<name sortKey="Montgomery, Grant W" sort="Montgomery, Grant W" uniqKey="Montgomery G" first="Grant W." last="Montgomery">Grant W. Montgomery</name>
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Variants Have Age-Specific Effects on Nevus Count and Predispose to Melanoma</title>
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<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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<name sortKey="Kvaskoff, Marina" sort="Kvaskoff, Marina" uniqKey="Kvaskoff M" first="Marina" last="Kvaskoff">Marina Kvaskoff</name>
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<country xml:lang="fr">Australie</country>
<wicri:regionArea>Queensland Institute of Medical Research, Brisbane 4029</wicri:regionArea>
<wicri:noRegion>Brisbane 4029</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1">
<nlm:aff id="aff6">INSERM, (Institut National de la Santé et de la Recherche Médicale), ERI 20, EA 4045, 75654 Paris Cedex 13, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>INSERM, (Institut National de la Santé et de la Recherche Médicale), ERI 20, EA 4045, 75654 Paris Cedex 13</wicri:regionArea>
<wicri:noRegion>75654 Paris Cedex 13</wicri:noRegion>
<wicri:noRegion>75654 Paris Cedex 13</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1">
<nlm:aff id="aff7">Institut Gustave Roussy, Villejuif, F-94805 France</nlm:aff>
<country wicri:rule="zip">France</country>
<wicri:regionArea>Institut Gustave Roussy, Villejuif, F-94805 France</wicri:regionArea>
<wicri:noRegion>94805 France</wicri:noRegion>
<wicri:noRegion>94805 France</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">
<nlm:aff id="aff1">Queensland Institute of Medical Research, Brisbane 4029, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Queensland Institute of Medical Research, Brisbane 4029</wicri:regionArea>
<wicri:noRegion>Brisbane 4029</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">
<nlm:aff id="aff3">Department of Twin Research & Genetic Epidemiology, St Thomas Hospital Campus, Kings College, London SE1 7EH, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Department of Twin Research & Genetic Epidemiology, St Thomas Hospital Campus, Kings College, London SE1 7EH</wicri:regionArea>
<wicri:noRegion>London SE1 7EH</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Hansson, Johan" sort="Hansson, Johan" uniqKey="Hansson J" first="Johan" last="Hansson">Johan Hansson</name>
<affiliation wicri:level="1">
<nlm:aff id="aff5">Department of Oncology-Pathology, Karolinska Institutet, Karolinska University Hospital Solna, 171 76 Stockholm</nlm:aff>
<country>Suède</country>
<placeName>
<settlement type="city">Stockholm</settlement>
<region nuts="2">Svealand</region>
</placeName>
<wicri:regionArea>Department of Oncology-Pathology, Karolinska Institutet, Karolinska University Hospital Solna</wicri:regionArea>
<wicri:noRegion>Karolinska University Hospital Solna</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>
<affiliation wicri:level="1">
<nlm:aff id="aff2">Section of Epidemiology and Biostatistics, Leeds Institute of Molecular Medicine, Cancer Research UK Clinical Centre at Leeds, St James's University Hospital, Leeds LS9 7TF, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Section of Epidemiology and Biostatistics, Leeds Institute of Molecular Medicine, Cancer Research UK Clinical Centre at Leeds, St James's University Hospital, Leeds LS9 7TF</wicri:regionArea>
<wicri:noRegion>Leeds LS9 7TF</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Bataille, Veronique" sort="Bataille, Veronique" uniqKey="Bataille V" first="Veronique" last="Bataille">Veronique Bataille</name>
<affiliation wicri:level="1">
<nlm:aff id="aff3">Department of Twin Research & Genetic Epidemiology, St Thomas Hospital Campus, Kings College, London SE1 7EH, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Department of Twin Research & Genetic Epidemiology, St Thomas Hospital Campus, Kings College, London SE1 7EH</wicri:regionArea>
<wicri:noRegion>London SE1 7EH</wicri:noRegion>
</affiliation>
</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">
<nlm:aff id="aff1">Queensland Institute of Medical Research, Brisbane 4029, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Queensland Institute of Medical Research, Brisbane 4029</wicri:regionArea>
<wicri:noRegion>Brisbane 4029</wicri:noRegion>
</affiliation>
</author>
<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">
<nlm:aff id="aff1">Queensland Institute of Medical Research, Brisbane 4029, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Queensland Institute of Medical Research, Brisbane 4029</wicri:regionArea>
<wicri:noRegion>Brisbane 4029</wicri:noRegion>
</affiliation>
</author>
<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">
<nlm:aff id="aff2">Section of Epidemiology and Biostatistics, Leeds Institute of Molecular Medicine, Cancer Research UK Clinical Centre at Leeds, St James's University Hospital, Leeds LS9 7TF, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Section of Epidemiology and Biostatistics, Leeds Institute of Molecular Medicine, Cancer Research UK Clinical Centre at Leeds, St James's University Hospital, Leeds LS9 7TF</wicri:regionArea>
<wicri:noRegion>Leeds LS9 7TF</wicri:noRegion>
</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">
<nlm:aff id="aff3">Department of Twin Research & Genetic Epidemiology, St Thomas Hospital Campus, Kings College, London SE1 7EH, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Department of Twin Research & Genetic Epidemiology, St Thomas Hospital Campus, Kings College, London SE1 7EH</wicri:regionArea>
<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">
<nlm:aff id="aff1">Queensland Institute of Medical Research, Brisbane 4029, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Queensland Institute of Medical Research, Brisbane 4029</wicri:regionArea>
<wicri:noRegion>Brisbane 4029</wicri:noRegion>
</affiliation>
</author>
</analytic>
<series>
<title level="j">American Journal of Human Genetics</title>
<idno type="ISSN">0002-9297</idno>
<idno type="eISSN">1537-6605</idno>
<imprint>
<date when="2010">2010</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc>
<textClass></textClass>
</profileDesc>
</teiHeader>
<front>
<div type="abstract" xml:lang="en">
<p>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 (
<italic>IRF4</italic>
[p = 6
<bold>×</bold>
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></sup>
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
<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 × 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).</p>
</div>
</front>
</TEI>
<affiliations>
<list>
<country>
<li>Australie</li>
<li>France</li>
<li>Royaume-Uni</li>
<li>Suède</li>
</country>
<region>
<li>Svealand</li>
</region>
<settlement>
<li>Stockholm</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="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="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>
<name sortKey="Zhu, Gu" sort="Zhu, Gu" uniqKey="Zhu G" first="Gu" last="Zhu">Gu Zhu</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">
<region name="Svealand">
<name sortKey="Hoiom, Veronica" sort="Hoiom, Veronica" uniqKey="Hoiom V" first="Veronica" last="Höiom">Veronica Höiom</name>
</region>
<name sortKey="Hansson, Johan" sort="Hansson, Johan" uniqKey="Hansson J" first="Johan" last="Hansson">Johan Hansson</name>
</country>
<country name="France">
<noRegion>
<name sortKey="Kvaskoff, Marina" sort="Kvaskoff, Marina" uniqKey="Kvaskoff M" first="Marina" last="Kvaskoff">Marina Kvaskoff</name>
</noRegion>
<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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