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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Polymorphisms in naevus-associated genes <italic>MTAP</italic>, <italic>PLA2G6</italic>, and <italic>IRF4</italic> and the risk of invasive cutaneous melanoma</title><author><name sortKey="Kvaskoff, Marina" sort="Kvaskoff, Marina" uniqKey="Kvaskoff M" first="Marina" last="Kvaskoff">Marina Kvaskoff</name><affiliation><nlm:aff id="A1">Inserm U1018, Centre for Research in Epidemiology and Population Health (CESP), “Nutrition, Hormones, and Women’s Health” Team, Institut Gustave Roussy, F-94805 Villejuif, France</nlm:aff></affiliation><affiliation><nlm:aff id="A2">Université Paris Sud 11, UMRS 1018, F-94807, Villejuif, France</nlm:aff></affiliation><affiliation><nlm:aff id="A3">Queensland Institute of Medical Research, Brisbane, QLD 4006, Australia</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="A3">Queensland Institute of Medical Research, Brisbane, QLD 4006, Australia</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="A3">Queensland Institute of Medical Research, Brisbane, QLD 4006, Australia</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="A3">Queensland Institute of Medical Research, Brisbane, QLD 4006, 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="A3">Queensland Institute of Medical Research, Brisbane, QLD 4006, Australia</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="A3">Queensland Institute of Medical Research, Brisbane, QLD 4006, Australia</nlm:aff></affiliation></author><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="A3">Queensland Institute of Medical Research, Brisbane, QLD 4006, Australia</nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">21962134</idno><idno type="pmc">3266856</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3266856</idno><idno type="RBID">PMC:3266856</idno><idno type="doi">10.1375/twin.14.5.422</idno><date when="2011">2011</date><idno type="wicri:Area/Pmc/Corpus">001538</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">001538</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Polymorphisms in naevus-associated genes <italic>MTAP</italic>, <italic>PLA2G6</italic>, and <italic>IRF4</italic> and the risk of invasive cutaneous melanoma</title><author><name sortKey="Kvaskoff, Marina" sort="Kvaskoff, Marina" uniqKey="Kvaskoff M" first="Marina" last="Kvaskoff">Marina Kvaskoff</name><affiliation><nlm:aff id="A1">Inserm U1018, Centre for Research in Epidemiology and Population Health (CESP), “Nutrition, Hormones, and Women’s Health” Team, Institut Gustave Roussy, F-94805 Villejuif, France</nlm:aff></affiliation><affiliation><nlm:aff id="A2">Université Paris Sud 11, UMRS 1018, F-94807, Villejuif, France</nlm:aff></affiliation><affiliation><nlm:aff id="A3">Queensland Institute of Medical Research, Brisbane, QLD 4006, Australia</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="A3">Queensland Institute of Medical Research, Brisbane, QLD 4006, Australia</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="A3">Queensland Institute of Medical Research, Brisbane, QLD 4006, Australia</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="A3">Queensland Institute of Medical Research, Brisbane, QLD 4006, 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="A3">Queensland Institute of Medical Research, Brisbane, QLD 4006, Australia</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="A3">Queensland Institute of Medical Research, Brisbane, QLD 4006, Australia</nlm:aff></affiliation></author><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="A3">Queensland Institute of Medical Research, Brisbane, QLD 4006, Australia</nlm:aff></affiliation></author></analytic><series><title level="j">Twin Research and Human Genetics</title><idno type="ISSN">1832-4274</idno><idno type="eISSN">1832-4274</idno><imprint><date when="2011">2011</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p id="P1">An evolving hypothesis postulates that melanomas may arise through “naevus-associated” and “chronic sun exposure” pathways. We explored this hypothesis by examining associations between naevus-associated loci and melanoma risk across strata of body site and histological subtype. We genotyped 1028 invasive case patients and 1469 controls for variants in <italic>MTAP</italic>, <italic>PLA2G6</italic>, and <italic>IRF4</italic>, and compared allelic frequencies globally and by anatomical site and histological subtype of melanoma. Odds-ratios (ORs) and 95% confidence intervals (CIs) were calculated using classical and multinomial logistic regression models. Among controls, <italic>MTAP</italic> rs10757257, <italic>PLA2G6</italic> rs132985 and <italic>IRF4</italic> rs12203592 were the variants most significantly associated with number of naevi. In adjusted models, a significant association was found between <italic>MTAP</italic> rs10757257 and overall melanoma risk (OR=1.32, 95% CI=1.14–1.53), with no evidence of heterogeneity across sites (<italic>P<sub>homogeneity</sub></italic>=0.52). In contrast, <italic>MTAP</italic> rs10757257 was associated with superficial spreading/nodular melanoma (OR=1.34, 95% CI=1.15–1.57), but not with lentigo maligna melanoma (OR=0.79, 95% CI=0.46–1.35) (<italic>P<sub>homogeneity</sub></italic>=0.06), the subtype associated with chronic sun exposure. Melanoma was significantly inversely associated with rs12203592 in children (OR=0.35, 95% CI=0.16–0.77) and adolescents (OR=0.61, 95% CI=0.42–0.91), but not in adults (<italic>P<sub>homogeneity</sub></italic>=0.0008). Our results suggest that the relationship between <italic>MTAP</italic> and melanoma is subtype-specific, and that the association between <italic>IRF4</italic> and melanoma is more evident for cases with a younger age at onset. These findings lend some support to the “divergent pathways” hypothesis and may provide at least one candidate gene underlying this model. Further studies are warranted to confirm these findings and improve our understanding of these relationships.</p></div></front></TEI><pmc article-type="research-article" xml:lang="en"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
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<front><journal-meta><journal-id journal-id-type="nlm-journal-id">101244624</journal-id><journal-id journal-id-type="pubmed-jr-id">32375</journal-id><journal-id journal-id-type="nlm-ta">Twin Res Hum Genet</journal-id><journal-title-group><journal-title>Twin Research and Human Genetics</journal-title></journal-title-group><issn pub-type="ppub">1832-4274</issn><issn pub-type="epub">1832-4274</issn></journal-meta><article-meta><article-id pub-id-type="pmid">21962134</article-id><article-id pub-id-type="pmc">3266856</article-id><article-id pub-id-type="doi">10.1375/twin.14.5.422</article-id><article-id pub-id-type="manuscript">NIHMS349921</article-id><article-categories><subj-group subj-group-type="heading"><subject>Article</subject></subj-group></article-categories><title-group><article-title>Polymorphisms in naevus-associated genes <italic>MTAP</italic>, <italic>PLA2G6</italic>, and <italic>IRF4</italic> and the risk of invasive cutaneous melanoma</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Kvaskoff</surname><given-names>Marina</given-names></name><xref ref-type="aff" rid="A1">1</xref><xref ref-type="aff" rid="A2">2</xref><xref ref-type="aff" rid="A3">3</xref></contrib><contrib contrib-type="author"><name><surname>Whiteman</surname><given-names>David C.</given-names></name><xref ref-type="aff" rid="A3">3</xref></contrib><contrib contrib-type="author"><name><surname>Zhao</surname><given-names>Zhen Z.</given-names></name><xref ref-type="aff" rid="A3">3</xref></contrib><contrib contrib-type="author"><name><surname>Montgomery</surname><given-names>Grant W.</given-names></name><xref ref-type="aff" rid="A3">3</xref></contrib><contrib contrib-type="author"><name><surname>Martin</surname><given-names>Nicholas G.</given-names></name><xref ref-type="aff" rid="A3">3</xref></contrib><contrib contrib-type="author"><name><surname>Hayward</surname><given-names>Nicholas K.</given-names></name><xref ref-type="aff" rid="A3">3</xref></contrib><contrib contrib-type="author"><name><surname>Duffy</surname><given-names>David L.</given-names></name><xref ref-type="aff" rid="A3">3</xref></contrib></contrib-group><aff id="A1"><label>1</label>Inserm U1018, Centre for Research in Epidemiology and Population Health (CESP), “Nutrition, Hormones, and Women’s Health” Team, Institut Gustave Roussy, F-94805 Villejuif, France</aff><aff id="A2"><label>2</label>Université Paris Sud 11, UMRS 1018, F-94807, Villejuif, France</aff><aff id="A3"><label>3</label>Queensland Institute of Medical Research, Brisbane, QLD 4006, Australia</aff><author-notes><corresp id="cor1"><bold>Corresponding author</bold>, Dr David Duffy, Queensland Institute of Medical Research, Genetic Epidemiology Group, 300 Herston Road, Herston, Queensland 4006, Australia, Tel: +61 7 3362 0217; Fax: +61 7 3362 0101; <email>David.Duffy@qimr.edu.au</email></corresp></author-notes><pub-date pub-type="nihms-submitted"><day>17</day><month>1</month><year>2012</year></pub-date><pub-date pub-type="ppub"><month>10</month><year>2011</year></pub-date><pub-date pub-type="pmc-release"><day>26</day><month>1</month><year>2012</year></pub-date><volume>14</volume><issue>5</issue><fpage>422</fpage><lpage>432</lpage><abstract><p id="P1">An evolving hypothesis postulates that melanomas may arise through “naevus-associated” and “chronic sun exposure” pathways. We explored this hypothesis by examining associations between naevus-associated loci and melanoma risk across strata of body site and histological subtype. We genotyped 1028 invasive case patients and 1469 controls for variants in <italic>MTAP</italic>, <italic>PLA2G6</italic>, and <italic>IRF4</italic>, and compared allelic frequencies globally and by anatomical site and histological subtype of melanoma. Odds-ratios (ORs) and 95% confidence intervals (CIs) were calculated using classical and multinomial logistic regression models. Among controls, <italic>MTAP</italic> rs10757257, <italic>PLA2G6</italic> rs132985 and <italic>IRF4</italic> rs12203592 were the variants most significantly associated with number of naevi. In adjusted models, a significant association was found between <italic>MTAP</italic> rs10757257 and overall melanoma risk (OR=1.32, 95% CI=1.14–1.53), with no evidence of heterogeneity across sites (<italic>P<sub>homogeneity</sub></italic>=0.52). In contrast, <italic>MTAP</italic> rs10757257 was associated with superficial spreading/nodular melanoma (OR=1.34, 95% CI=1.15–1.57), but not with lentigo maligna melanoma (OR=0.79, 95% CI=0.46–1.35) (<italic>P<sub>homogeneity</sub></italic>=0.06), the subtype associated with chronic sun exposure. Melanoma was significantly inversely associated with rs12203592 in children (OR=0.35, 95% CI=0.16–0.77) and adolescents (OR=0.61, 95% CI=0.42–0.91), but not in adults (<italic>P<sub>homogeneity</sub></italic>=0.0008). Our results suggest that the relationship between <italic>MTAP</italic> and melanoma is subtype-specific, and that the association between <italic>IRF4</italic> and melanoma is more evident for cases with a younger age at onset. These findings lend some support to the “divergent pathways” hypothesis and may provide at least one candidate gene underlying this model. Further studies are warranted to confirm these findings and improve our understanding of these relationships.</p></abstract><kwd-group><kwd>cutaneous melanoma</kwd><kwd>epidemiology</kwd><kwd>genes</kwd><kwd>naevi</kwd><kwd>polymorphisms</kwd></kwd-group></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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