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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en"><italic>IRF4</italic> Variants Have Age-Specific Effects on Nevus Count and Predispose to Melanoma</title><author><name sortKey="Duffy, David L" sort="Duffy, David L" uniqKey="Duffy D" first="David L." last="Duffy">David L. Duffy</name><affiliation><nlm:aff id="aff1">Queensland Institute of Medical Research, Brisbane 4029, Australia</nlm:aff></affiliation></author><author><name sortKey="Iles, Mark M" sort="Iles, Mark M" uniqKey="Iles M" first="Mark M." last="Iles">Mark M. Iles</name><affiliation><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></affiliation></author><author><name sortKey="Glass, Dan" sort="Glass, Dan" uniqKey="Glass D" first="Dan" last="Glass">Dan Glass</name><affiliation><nlm:aff id="aff3">Department of Twin Research & Genetic Epidemiology, St Thomas Hospital Campus, Kings College, London SE1 7EH, UK</nlm:aff></affiliation></author><author><name sortKey="Zhu, Gu" sort="Zhu, Gu" uniqKey="Zhu G" first="Gu" last="Zhu">Gu Zhu</name><affiliation><nlm:aff id="aff1">Queensland Institute of Medical Research, Brisbane 4029, Australia</nlm:aff></affiliation></author><author><name sortKey="Barrett, Jennifer H" sort="Barrett, Jennifer H" uniqKey="Barrett J" first="Jennifer H." last="Barrett">Jennifer H. Barrett</name><affiliation><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></affiliation></author><author><name sortKey="Hoiom, Veronica" sort="Hoiom, Veronica" uniqKey="Hoiom V" first="Veronica" last="Höiom">Veronica Höiom</name><affiliation><nlm:aff id="aff5">Department of Oncology-Pathology, Karolinska Institutet, Karolinska University Hospital Solna, 171 76 Stockholm</nlm:aff></affiliation></author><author><name sortKey="Zhao, Zhen Z" sort="Zhao, Zhen Z" uniqKey="Zhao Z" first="Zhen Z." last="Zhao">Zhen Z. Zhao</name><affiliation><nlm:aff id="aff1">Queensland Institute of Medical Research, Brisbane 4029, Australia</nlm:aff></affiliation></author><author><name sortKey="Sturm, Richard A" sort="Sturm, Richard A" uniqKey="Sturm R" first="Richard A." last="Sturm">Richard A. Sturm</name><affiliation><nlm:aff id="aff4">The University of Queensland, Melanogenix Group, Institute of Molecular Bioscience, Brisbane 4072, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="aff1">Queensland Institute of Medical Research, Brisbane 4029, Australia</nlm:aff></affiliation></author><author><name sortKey="Soranzo, Nicole" sort="Soranzo, Nicole" uniqKey="Soranzo N" first="Nicole" last="Soranzo">Nicole Soranzo</name><affiliation><nlm:aff id="aff3">Department of Twin Research & Genetic Epidemiology, St Thomas Hospital Campus, Kings College, London SE1 7EH, UK</nlm:aff></affiliation></author><author><name sortKey="Hammond, Chris" sort="Hammond, Chris" uniqKey="Hammond C" first="Chris" last="Hammond">Chris Hammond</name><affiliation><nlm:aff id="aff3">Department of Twin Research & Genetic Epidemiology, St Thomas Hospital Campus, Kings College, London SE1 7EH, UK</nlm:aff></affiliation></author><author><name sortKey="Kvaskoff, Marina" sort="Kvaskoff, Marina" uniqKey="Kvaskoff M" first="Marina" last="Kvaskoff">Marina Kvaskoff</name><affiliation><nlm:aff id="aff1">Queensland Institute of Medical Research, Brisbane 4029, Australia</nlm:aff></affiliation><affiliation><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></affiliation><affiliation><nlm:aff id="aff7">Institut Gustave Roussy, Villejuif, F-94805 France</nlm:aff></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><nlm:aff id="aff1">Queensland Institute of Medical Research, Brisbane 4029, Australia</nlm:aff></affiliation></author><author><name sortKey="Mangino, Massimo" sort="Mangino, Massimo" uniqKey="Mangino M" first="Massimo" last="Mangino">Massimo Mangino</name><affiliation><nlm:aff id="aff3">Department of Twin Research & Genetic Epidemiology, St Thomas Hospital Campus, Kings College, London SE1 7EH, UK</nlm:aff></affiliation></author><author><name sortKey="Hansson, Johan" sort="Hansson, Johan" uniqKey="Hansson J" first="Johan" last="Hansson">Johan Hansson</name><affiliation><nlm:aff id="aff5">Department of Oncology-Pathology, Karolinska Institutet, Karolinska University Hospital Solna, 171 76 Stockholm</nlm:aff></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><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></affiliation></author><author><name sortKey="Bataille, Veronique" sort="Bataille, Veronique" uniqKey="Bataille V" first="Veronique" last="Bataille">Veronique Bataille</name><affiliation><nlm:aff id="aff3">Department of Twin Research & Genetic Epidemiology, St Thomas Hospital Campus, Kings College, London SE1 7EH, UK</nlm:aff></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><nlm:aff id="aff1">Queensland Institute of Medical Research, Brisbane 4029, Australia</nlm:aff></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><nlm:aff id="aff1">Queensland Institute of Medical Research, Brisbane 4029, Australia</nlm:aff></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><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></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><nlm:aff id="aff3">Department of Twin Research & Genetic Epidemiology, St Thomas Hospital Campus, Kings College, London SE1 7EH, UK</nlm:aff></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><nlm:aff id="aff1">Queensland Institute of Medical Research, Brisbane 4029, Australia</nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">20602913</idno><idno type="pmc">2896771</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2896771</idno><idno type="RBID">PMC:2896771</idno><idno type="doi">10.1016/j.ajhg.2010.05.017</idno><date when="2010">2010</date><idno type="wicri:Area/Pmc/Corpus">001677</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">001677</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main"><italic>IRF4</italic> Variants Have Age-Specific Effects on Nevus Count and Predispose to Melanoma</title><author><name sortKey="Duffy, David L" sort="Duffy, David L" uniqKey="Duffy D" first="David L." last="Duffy">David L. Duffy</name><affiliation><nlm:aff id="aff1">Queensland Institute of Medical Research, Brisbane 4029, Australia</nlm:aff></affiliation></author><author><name sortKey="Iles, Mark M" sort="Iles, Mark M" uniqKey="Iles M" first="Mark M." last="Iles">Mark M. Iles</name><affiliation><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></affiliation></author><author><name sortKey="Glass, Dan" sort="Glass, Dan" uniqKey="Glass D" first="Dan" last="Glass">Dan Glass</name><affiliation><nlm:aff id="aff3">Department of Twin Research & Genetic Epidemiology, St Thomas Hospital Campus, Kings College, London SE1 7EH, UK</nlm:aff></affiliation></author><author><name sortKey="Zhu, Gu" sort="Zhu, Gu" uniqKey="Zhu G" first="Gu" last="Zhu">Gu Zhu</name><affiliation><nlm:aff id="aff1">Queensland Institute of Medical Research, Brisbane 4029, Australia</nlm:aff></affiliation></author><author><name sortKey="Barrett, Jennifer H" sort="Barrett, Jennifer H" uniqKey="Barrett J" first="Jennifer H." last="Barrett">Jennifer H. Barrett</name><affiliation><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></affiliation></author><author><name sortKey="Hoiom, Veronica" sort="Hoiom, Veronica" uniqKey="Hoiom V" first="Veronica" last="Höiom">Veronica Höiom</name><affiliation><nlm:aff id="aff5">Department of Oncology-Pathology, Karolinska Institutet, Karolinska University Hospital Solna, 171 76 Stockholm</nlm:aff></affiliation></author><author><name sortKey="Zhao, Zhen Z" sort="Zhao, Zhen Z" uniqKey="Zhao Z" first="Zhen Z." last="Zhao">Zhen Z. Zhao</name><affiliation><nlm:aff id="aff1">Queensland Institute of Medical Research, Brisbane 4029, Australia</nlm:aff></affiliation></author><author><name sortKey="Sturm, Richard A" sort="Sturm, Richard A" uniqKey="Sturm R" first="Richard A." last="Sturm">Richard A. Sturm</name><affiliation><nlm:aff id="aff4">The University of Queensland, Melanogenix Group, Institute of Molecular Bioscience, Brisbane 4072, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="aff1">Queensland Institute of Medical Research, Brisbane 4029, Australia</nlm:aff></affiliation></author><author><name sortKey="Soranzo, Nicole" sort="Soranzo, Nicole" uniqKey="Soranzo N" first="Nicole" last="Soranzo">Nicole Soranzo</name><affiliation><nlm:aff id="aff3">Department of Twin Research & Genetic Epidemiology, St Thomas Hospital Campus, Kings College, London SE1 7EH, UK</nlm:aff></affiliation></author><author><name sortKey="Hammond, Chris" sort="Hammond, Chris" uniqKey="Hammond C" first="Chris" last="Hammond">Chris Hammond</name><affiliation><nlm:aff id="aff3">Department of Twin Research & Genetic Epidemiology, St Thomas Hospital Campus, Kings College, London SE1 7EH, UK</nlm:aff></affiliation></author><author><name sortKey="Kvaskoff, Marina" sort="Kvaskoff, Marina" uniqKey="Kvaskoff M" first="Marina" last="Kvaskoff">Marina Kvaskoff</name><affiliation><nlm:aff id="aff1">Queensland Institute of Medical Research, Brisbane 4029, Australia</nlm:aff></affiliation><affiliation><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></affiliation><affiliation><nlm:aff id="aff7">Institut Gustave Roussy, Villejuif, F-94805 France</nlm:aff></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><nlm:aff id="aff1">Queensland Institute of Medical Research, Brisbane 4029, Australia</nlm:aff></affiliation></author><author><name sortKey="Mangino, Massimo" sort="Mangino, Massimo" uniqKey="Mangino M" first="Massimo" last="Mangino">Massimo Mangino</name><affiliation><nlm:aff id="aff3">Department of Twin Research & Genetic Epidemiology, St Thomas Hospital Campus, Kings College, London SE1 7EH, UK</nlm:aff></affiliation></author><author><name sortKey="Hansson, Johan" sort="Hansson, Johan" uniqKey="Hansson J" first="Johan" last="Hansson">Johan Hansson</name><affiliation><nlm:aff id="aff5">Department of Oncology-Pathology, Karolinska Institutet, Karolinska University Hospital Solna, 171 76 Stockholm</nlm:aff></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><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></affiliation></author><author><name sortKey="Bataille, Veronique" sort="Bataille, Veronique" uniqKey="Bataille V" first="Veronique" last="Bataille">Veronique Bataille</name><affiliation><nlm:aff id="aff3">Department of Twin Research & Genetic Epidemiology, St Thomas Hospital Campus, Kings College, London SE1 7EH, UK</nlm:aff></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><nlm:aff id="aff1">Queensland Institute of Medical Research, Brisbane 4029, Australia</nlm:aff></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><nlm:aff id="aff1">Queensland Institute of Medical Research, Brisbane 4029, Australia</nlm:aff></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><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></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><nlm:aff id="aff3">Department of Twin Research & Genetic Epidemiology, St Thomas Hospital Campus, Kings College, London SE1 7EH, UK</nlm:aff></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><nlm:aff id="aff1">Queensland Institute of Medical Research, Brisbane 4029, Australia</nlm:aff></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><pmc article-type="research-article"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<front><journal-meta><journal-id journal-id-type="nlm-ta">Am J Hum Genet</journal-id><journal-id journal-id-type="iso-abbrev">Am. J. Hum. Genet</journal-id><journal-title-group><journal-title>American Journal of Human Genetics</journal-title></journal-title-group><issn pub-type="ppub">0002-9297</issn><issn pub-type="epub">1537-6605</issn><publisher><publisher-name>Elsevier</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="pmid">20602913</article-id><article-id pub-id-type="pmc">2896771</article-id><article-id pub-id-type="publisher-id">S0002-9297(10)00265-X</article-id><article-id pub-id-type="doi">10.1016/j.ajhg.2010.05.017</article-id><article-categories><subj-group subj-group-type="heading"><subject>Article</subject></subj-group></article-categories><title-group><article-title><italic>IRF4</italic> Variants Have Age-Specific Effects on Nevus Count and Predispose to Melanoma</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Duffy</surname><given-names>David L.</given-names></name><xref rid="aff1" ref-type="aff">1</xref><xref rid="fn1" ref-type="fn">9</xref></contrib><contrib contrib-type="author"><name><surname>Iles</surname><given-names>Mark M.</given-names></name><xref rid="aff2" ref-type="aff">2</xref><xref rid="fn1" ref-type="fn">9</xref></contrib><contrib contrib-type="author"><name><surname>Glass</surname><given-names>Dan</given-names></name><xref rid="aff3" ref-type="aff">3</xref><xref rid="fn1" ref-type="fn">9</xref></contrib><contrib contrib-type="author"><name><surname>Zhu</surname><given-names>Gu</given-names></name><xref rid="aff1" ref-type="aff">1</xref></contrib><contrib contrib-type="author"><name><surname>Barrett</surname><given-names>Jennifer H.</given-names></name><xref rid="aff2" ref-type="aff">2</xref></contrib><contrib contrib-type="author"><name><surname>Höiom</surname><given-names>Veronica</given-names></name><xref rid="aff5" ref-type="aff">5</xref></contrib><contrib contrib-type="author"><name><surname>Zhao</surname><given-names>Zhen Z.</given-names></name><xref rid="aff1" ref-type="aff">1</xref></contrib><contrib contrib-type="author"><name><surname>Sturm</surname><given-names>Richard A.</given-names></name><xref rid="aff4" ref-type="aff">4</xref><xref rid="aff1" ref-type="aff">1</xref></contrib><contrib contrib-type="author"><name><surname>Soranzo</surname><given-names>Nicole</given-names></name><xref rid="aff3" ref-type="aff">3</xref></contrib><contrib contrib-type="author"><name><surname>Hammond</surname><given-names>Chris</given-names></name><xref rid="aff3" ref-type="aff">3</xref></contrib><contrib contrib-type="author"><name><surname>Kvaskoff</surname><given-names>Marina</given-names></name><xref rid="aff1" ref-type="aff">1</xref><xref rid="aff6" ref-type="aff">6</xref><xref rid="aff7" ref-type="aff">7</xref></contrib><contrib contrib-type="author"><name><surname>Whiteman</surname><given-names>David C.</given-names></name><xref rid="aff1" ref-type="aff">1</xref></contrib><contrib contrib-type="author"><name><surname>Mangino</surname><given-names>Massimo</given-names></name><xref rid="aff3" ref-type="aff">3</xref></contrib><contrib contrib-type="author"><name><surname>Hansson</surname><given-names>Johan</given-names></name><xref rid="aff5" ref-type="aff">5</xref></contrib><contrib contrib-type="author"><name><surname>Newton-Bishop</surname><given-names>Julia A.</given-names></name><xref rid="aff2" ref-type="aff">2</xref></contrib><contrib contrib-type="author"><collab>GenoMEL</collab><xref rid="aff8" ref-type="aff">8</xref></contrib><contrib contrib-type="author"><name><surname>Bataille</surname><given-names>Veronique</given-names></name><xref rid="aff3" ref-type="aff">3</xref></contrib><contrib contrib-type="author"><name><surname>Hayward</surname><given-names>Nicholas K.</given-names></name><xref rid="aff1" ref-type="aff">1</xref></contrib><contrib contrib-type="author"><name><surname>Martin</surname><given-names>Nicholas G.</given-names></name><xref rid="aff1" ref-type="aff">1</xref></contrib><contrib contrib-type="author"><name><surname>Bishop</surname><given-names>D. Timothy</given-names></name><xref rid="aff2" ref-type="aff">2</xref><xref rid="fn1" ref-type="fn">9</xref></contrib><contrib contrib-type="author"><name><surname>Spector</surname><given-names>Timothy D.</given-names></name><xref rid="aff3" ref-type="aff">3</xref><xref rid="fn1" ref-type="fn">9</xref></contrib><contrib contrib-type="author"><name><surname>Montgomery</surname><given-names>Grant W.</given-names></name><email>grant.montgomery@qimr.edu.au</email><xref rid="aff1" ref-type="aff">1</xref><xref rid="fn1" ref-type="fn">9</xref><xref rid="cor1" ref-type="corresp">∗</xref></contrib></contrib-group><aff id="aff1"><label>1</label>Queensland Institute of Medical Research, Brisbane 4029, Australia</aff><aff id="aff2"><label>2</label>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</aff><aff id="aff3"><label>3</label>Department of Twin Research & Genetic Epidemiology, St Thomas Hospital Campus, Kings College, London SE1 7EH, UK</aff><aff id="aff4"><label>4</label>The University of Queensland, Melanogenix Group, Institute of Molecular Bioscience, Brisbane 4072, Australia</aff><aff id="aff5"><label>5</label>Department of Oncology-Pathology, Karolinska Institutet, Karolinska University Hospital Solna, 171 76 Stockholm</aff><aff id="aff6"><label>6</label>INSERM, (Institut National de la Santé et de la Recherche Médicale), ERI 20, EA 4045, 75654 Paris Cedex 13, France</aff><aff id="aff7"><label>7</label>Institut Gustave Roussy, Villejuif, F-94805 France</aff><aff id="aff8"><label>8</label>The Melanoma Genetics Consortium (GenoMEL)</aff><author-notes><corresp id="cor1"><label>∗</label>Corresponding author <email>grant.montgomery@qimr.edu.au</email></corresp><fn id="fn1"><label>9</label><p>These authors contributed equally to this work</p></fn></author-notes><pub-date pub-type="ppub"><day>09</day><month>7</month><year>2010</year></pub-date><volume>87</volume><issue>1</issue><fpage>6</fpage><lpage>16</lpage><history><date date-type="received"><day>12</day><month>1</month><year>2010</year></date><date date-type="rev-recd"><day>30</day><month>4</month><year>2010</year></date><date date-type="accepted"><day>21</day><month>5</month><year>2010</year></date></history><permissions><copyright-statement>© 2010 The American Society of Human Genetics. Published by Elsevier Ltd. All right reserved.</copyright-statement><copyright-year>2010</copyright-year><copyright-holder>The American Society of Human Genetics</copyright-holder></permissions><abstract><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></abstract></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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