Polymorphisms in Nevus-Associated Genes MTAP, PLA2G6, and IRF4 and the Risk of Invasive Cutaneous Melanoma
Identifieur interne : 002110 ( Istex/Corpus ); précédent : 002109; suivant : 002111Polymorphisms in Nevus-Associated Genes MTAP, PLA2G6, and IRF4 and the Risk of Invasive Cutaneous Melanoma
Auteurs : Marina Kvaskoff ; David C. Whiteman ; Zhen Z. Zhao ; Grant W. Montgomery ; Nicholas G. Martin ; Nicholas K. Hayward ; David L. DuffySource :
- Twin Research and Human Genetics [ 1832-4274 ] ; 2011-10-01.
Abstract
An evolving hypothesis postulates that melanomas may arise through ‘nevus-associated’ and ‘chronic sun exposure’ pathways. We explored this hypothesis by examining associations between nevus-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 methylthioadenosine phosphorylase (MTAP), phospholipase A2, group VI (PLA2G6), and Interferon regulatory factor 4 (IRF4), 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, MTAP rs10757257, PLA2G6 rs132985 and IRF4 rs12203592 were the variants most significantly associated with number of nevi. In adjusted models, a significant association was found between MTAP rs10757257 and overall melanoma risk (OR = 1.32, 95% CI = 1.14–1.53), with no evidence of heterogeneity across sites (Phomogeneity =.52). In contrast, MTAP 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) (Phomogeneity =.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 (Phomogeneity =.0008). Our results suggest that the relationship between MTAP and melanoma is subtype-specific, and that the association between IRF4 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.
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DOI: 10.1375/twin.14.5.422
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<publisher-loc>Cambridge, UK</publisher-loc>
</publisher>
</journal-meta>
<article-meta><article-id pub-id-type="doi">10.1375/twin.14.5.422</article-id>
<article-id pub-id-type="pii">S1832427400011634</article-id>
<article-id pub-id-type="publisher-id">01163</article-id>
<title-group><article-title>Polymorphisms in Nevus-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><name><surname>Kvaskoff</surname>
<given-names>Marina</given-names>
</name>
<xref ref-type="aff" rid="aff1"><sup>1</sup>
</xref>
</contrib>
<contrib><name><surname>Whiteman</surname>
<given-names>David C.</given-names>
</name>
<xref ref-type="aff" rid="aff2"><sup>2</sup>
</xref>
</contrib>
<contrib><name><surname>Zhao</surname>
<given-names>Zhen Z.</given-names>
</name>
<xref ref-type="aff" rid="aff3"><sup>3</sup>
</xref>
</contrib>
<contrib><name><surname>Montgomery</surname>
<given-names>Grant W.</given-names>
</name>
<xref ref-type="aff" rid="aff4"><sup>4</sup>
</xref>
</contrib>
<contrib><name><surname>Martin</surname>
<given-names>Nicholas G.</given-names>
</name>
<xref ref-type="aff" rid="aff5"><sup>5</sup>
</xref>
</contrib>
<contrib><name><surname>Hayward</surname>
<given-names>Nicholas K.</given-names>
</name>
<xref ref-type="aff" rid="aff6"><sup>6</sup>
</xref>
</contrib>
<contrib><name><surname>Duffy</surname>
<given-names>David L.</given-names>
</name>
<xref ref-type="aff" rid="aff7"><sup>7</sup>
</xref>
<xref ref-type="corresp" rid="cor1">*</xref>
</contrib>
</contrib-group>
<aff id="aff1"><label><sup>1</sup>
</label>
Inserm U1018, Centre for Research in Epidemiology and Population Health (CESP), ‘Nutrition, Hormones, and Women's Health’ Team, Institut Gustave Roussy, Villejuif, France; Université Paris Sud 11, Villejuif, France; Queensland Institute of Medical Research, Brisbane, Australia.</aff>
<aff id="aff2"><label><sup>2</sup>
</label>
Queensland Institute of Medical Research, Brisbane, Australia.</aff>
<aff id="aff3"><label><sup>3</sup>
</label>
Queensland Institute of Medical Research, Brisbane, Australia.</aff>
<aff id="aff4"><label><sup>4</sup>
</label>
Queensland Institute of Medical Research, Brisbane, Australia.</aff>
<aff id="aff5"><label><sup>5</sup>
</label>
Queensland Institute of Medical Research, Brisbane, Australia.</aff>
<aff id="aff6"><label><sup>6</sup>
</label>
Queensland Institute of Medical Research, Brisbane, Australia.</aff>
<aff id="aff7"><label><sup>7</sup>
</label>
Queensland Institute of Medical Research, Brisbane, Australia. <email xlink:href="David.Duffy@qimr.edu.au">David.Duffy@qimr.edu.au</email>
</aff>
<author-notes><corresp id="cor1"><label>*</label>
ADDRESS FOR CORRESPONDENCE: Dr David Duffy, <addr-line>Queensland Institute of Medical Research, Genetic Epidemiology Group, 300 Herston Road, Herston QLD 4006, Australia.</addr-line>
</corresp>
</author-notes>
<pub-date pub-type="ppub"><day>01</day>
<month>10</month>
<year>2011</year>
</pub-date>
<volume>14</volume>
<issue>5</issue>
<fpage seq="6">422</fpage>
<lpage>432</lpage>
<history><date date-type="received"><day>01</day>
<month>07</month>
<year>2011</year>
</date>
<date date-type="accepted"><day>04</day>
<month>07</month>
<year>2011</year>
</date>
</history>
<permissions><copyright-statement>Copyright © Cambridge University Press 2011</copyright-statement>
<copyright-year>2011</copyright-year>
<copyright-holder>Cambridge University Press</copyright-holder>
</permissions>
<abstract abstract-type="normal"><p>An evolving hypothesis postulates that melanomas may arise through ‘nevus-associated’ and ‘chronic sun exposure’ pathways. We explored this hypothesis by examining associations between nevus-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 methylthioadenosine phosphorylase (MTAP), phospholipase A2, group VI <italic>(PLA2G6)</italic>
, and Interferon regulatory factor 4 <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 nevi. 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>Phomogeneity</italic>
=.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>Phomogeneity</italic>
=.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>Phomogeneity</italic>
=.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-group-type=""><title>Keywords</title>
<kwd>cutaneous melanoma</kwd>
<kwd>epidemiology</kwd>
<kwd>genes</kwd>
<kwd>nevi</kwd>
<kwd>polymorphisms</kwd>
</kwd-group>
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<affiliation>Inserm U1018, Centre for Research in Epidemiology and Population Health (CESP), ‘Nutrition, Hormones, and Women's Health’ Team, Institut Gustave Roussy, Villejuif, France; Université Paris Sud 11, Villejuif, France; Queensland Institute of Medical Research, Brisbane, Australia.</affiliation>
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<name type="personal"><namePart type="given">Grant W.</namePart>
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<name type="personal"><namePart type="given">Nicholas G.</namePart>
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<name type="personal"><namePart type="given">Nicholas K.</namePart>
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<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">David L.</namePart>
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<abstract type="normal">An evolving hypothesis postulates that melanomas may arise through ‘nevus-associated’ and ‘chronic sun exposure’ pathways. We explored this hypothesis by examining associations between nevus-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 methylthioadenosine phosphorylase (MTAP), phospholipase A2, group VI (PLA2G6), and Interferon regulatory factor 4 (IRF4), 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, MTAP rs10757257, PLA2G6 rs132985 and IRF4 rs12203592 were the variants most significantly associated with number of nevi. In adjusted models, a significant association was found between MTAP rs10757257 and overall melanoma risk (OR = 1.32, 95% CI = 1.14–1.53), with no evidence of heterogeneity across sites (Phomogeneity =.52). In contrast, MTAP 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) (Phomogeneity =.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 (Phomogeneity =.0008). Our results suggest that the relationship between MTAP and melanoma is subtype-specific, and that the association between IRF4 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.</abstract>
<note type="author-notes">*ADDRESS FOR CORRESPONDENCE: Dr David Duffy, Queensland Institute of Medical Research, Genetic Epidemiology Group, 300 Herston Road, Herston QLD 4006, Australia.</note>
<subject><genre>Keywords</genre>
<topic>cutaneous melanoma</topic>
<topic>epidemiology</topic>
<topic>genes</topic>
<topic>nevi</topic>
<topic>polymorphisms</topic>
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