Suggestive synergy between genetic variants in TF and HFE as risk factors for Alzheimer's disease
Identifieur interne : 002712 ( Main/Corpus ); précédent : 002711; suivant : 002713Suggestive synergy between genetic variants in TF and HFE as risk factors for Alzheimer's disease
Auteurs : J. S. K. Kauwe ; S. Bertelsen ; K. Mayo ; C. Cruchaga ; R. Abraham ; P. Hollingworth ; D. Harold ; M. J. Owen ; J. Williams ; S. Lovestone ; J. C. Morris ; A. M. GoateSource :
- American Journal of Medical Genetics Part B: Neuropsychiatric Genetics [ 1552-4841 ] ; 2010-06.
English descriptors
Abstract
Alzheimer's disease (AD) is a complex disease that is likely influenced by many genetic and environmental factors. Citing evidence that iron may play a role in AD pathology, Robson et al. [Robson et al. (2004); J Med Genet 41:261–265] reported that epistatic interaction between rs1049296 (P589S) in the transferrin gene (TF) and rs1800562 (C282Y) in the hemochromatosis gene (HFE) results in significant association with risk for AD. In this study we attempted to replicate their findings in a total of 1,166 cases and 1,404 controls from three European and European American populations. Allele and genotype frequencies were consistent across the three populations. Using synergy factor analysis (SFA) and Logistic Regression analysis we tested each population and the combined sample for interactions between these two SNPs and risk for AD. We observed significant association between bi‐carriers of the minor alleles of rs1049296 and rs1800562 in the combined sample using SFA (P = 0.0016, synergy factor = 2.71) and adjusted SFA adjusting for age and presence of the APOE epsilon 4 allele (P = 0.002, OR = 2.4). These results validate those of the previous report and support the hypothesis that iron transport and regulation play a role in AD pathology. © 2009 Wiley‐Liss, Inc.
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DOI: 10.1002/ajmg.b.31053
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Williams</name><affiliation><mods:affiliation>Department of Psychological Medicine, MRC Centre for Neuropsychiatric Genetics and Genomics, School of Medicine, Cardiff University, Cardiff, UK</mods:affiliation></affiliation></author><author><name sortKey="Lovestone, S" sort="Lovestone, S" uniqKey="Lovestone S" first="S." last="Lovestone">S. Lovestone</name><affiliation><mods:affiliation>Department of Neuroscience, Institute of Psychiatry, Kings College, London, UK</mods:affiliation></affiliation></author><author><name sortKey="Morris, J C" sort="Morris, J C" uniqKey="Morris J" first="J. C." last="Morris">J. C. Morris</name><affiliation><mods:affiliation>Department of Psychiatry & Neurology, Washington University School of Medicine, St. Louis, Missouri</mods:affiliation></affiliation></author><author><name sortKey="Goate, A M" sort="Goate, A M" uniqKey="Goate A" first="A. M." last="Goate">A. M. Goate</name><affiliation><mods:affiliation>Department of Psychiatry & Neurology, Washington University School of Medicine, St. Louis, Missouri</mods:affiliation></affiliation></author></analytic><monogr></monogr><series><title level="j">American Journal of Medical Genetics Part B: Neuropsychiatric Genetics</title><title level="j" type="abbrev">Am. J. Med. Genet.</title><idno type="ISSN">1552-4841</idno><idno type="eISSN">1552-485X</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2010-06">2010-06</date><biblScope unit="volume">153B</biblScope><biblScope unit="issue">4</biblScope><biblScope unit="page" from="955">955</biblScope><biblScope unit="page" to="959">959</biblScope></imprint><idno type="ISSN">1552-4841</idno></series><idno type="istex">9ECBDF207BCE2D318332DA8C420BEFDB7BEF7BB1</idno><idno type="DOI">10.1002/ajmg.b.31053</idno><idno type="ArticleID">AJMG31053</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">1552-4841</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Alzheimer's disease</term><term>epistasis</term><term>genetic association</term><term>hemachromatosis gene</term><term>transferrin</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="fr">Alzheimer's disease (AD) is a complex disease that is likely influenced by many genetic and environmental factors. Citing evidence that iron may play a role in AD pathology, Robson et al. [Robson et al. (2004); J Med Genet 41:261–265] reported that epistatic interaction between rs1049296 (P589S) in the transferrin gene (TF) and rs1800562 (C282Y) in the hemochromatosis gene (HFE) results in significant association with risk for AD. In this study we attempted to replicate their findings in a total of 1,166 cases and 1,404 controls from three European and European American populations. Allele and genotype frequencies were consistent across the three populations. Using synergy factor analysis (SFA) and Logistic Regression analysis we tested each population and the combined sample for interactions between these two SNPs and risk for AD. We observed significant association between bi‐carriers of the minor alleles of rs1049296 and rs1800562 in the combined sample using SFA (P = 0.0016, synergy factor = 2.71) and adjusted SFA adjusting for age and presence of the APOE epsilon 4 allele (P = 0.002, OR = 2.4). These results validate those of the previous report and support the hypothesis that iron transport and regulation play a role in AD pathology. © 2009 Wiley‐Liss, Inc.</div></front></TEI><istex><corpusName>wiley</corpusName><author><json:item><name>J.S.K. Kauwe</name><affiliations><json:string>Department of Psychiatry & Neurology, Washington University School of Medicine, St. Louis, Missouri</json:string><json:string>Current Address: Assistant Professor, Department of Biology, Brigham Young University, Provo, UT 84602.</json:string></affiliations></json:item><json:item><name>S. Bertelsen</name><affiliations><json:string>Department of Psychiatry & Neurology, Washington University School of Medicine, St. Louis, Missouri</json:string></affiliations></json:item><json:item><name>K. Mayo</name><affiliations><json:string>Department of Psychiatry & Neurology, Washington University School of Medicine, St. Louis, Missouri</json:string></affiliations></json:item><json:item><name>C. Cruchaga</name><affiliations><json:string>Department of Psychiatry & Neurology, Washington University School of Medicine, St. Louis, Missouri</json:string></affiliations></json:item><json:item><name>R. Abraham</name><affiliations><json:string>Department of Psychological Medicine, MRC Centre for Neuropsychiatric Genetics and Genomics, School of Medicine, Cardiff University, Cardiff, UK</json:string></affiliations></json:item><json:item><name>P. Hollingworth</name><affiliations><json:string>Department of Psychological Medicine, MRC Centre for Neuropsychiatric Genetics and Genomics, School of Medicine, Cardiff University, Cardiff, UK</json:string></affiliations></json:item><json:item><name>D. Harold</name><affiliations><json:string>Department of Psychological Medicine, MRC Centre for Neuropsychiatric Genetics and Genomics, School of Medicine, Cardiff University, Cardiff, UK</json:string></affiliations></json:item><json:item><name>M.J. Owen</name><affiliations><json:string>Department of Psychological Medicine, MRC Centre for Neuropsychiatric Genetics and Genomics, School of Medicine, Cardiff University, Cardiff, UK</json:string></affiliations></json:item><json:item><name>J. Williams</name><affiliations><json:string>Department of Psychological Medicine, MRC Centre for Neuropsychiatric Genetics and Genomics, School of Medicine, Cardiff University, Cardiff, UK</json:string></affiliations></json:item><json:item><name>S. Lovestone</name><affiliations><json:string>Department of Neuroscience, Institute of Psychiatry, Kings College, London, UK</json:string></affiliations></json:item><json:item><name>J.C. Morris</name><affiliations><json:string>Department of Psychiatry & Neurology, Washington University School of Medicine, St. Louis, Missouri</json:string></affiliations></json:item><json:item><name>A.M. Goate</name><affiliations><json:string>Department of Psychiatry & Neurology, Washington University School of Medicine, St. Louis, Missouri</json:string></affiliations></json:item></author><subject><json:item><lang><json:string>eng</json:string></lang><value>transferrin</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>hemachromatosis gene</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>Alzheimer's disease</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>epistasis</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>genetic association</value></json:item></subject><articleId><json:string>AJMG31053</json:string></articleId><language><json:string>eng</json:string></language><abstract>Alzheimer's disease (AD) is a complex disease that is likely influenced by many genetic and environmental factors. Citing evidence that iron may play a role in AD pathology, Robson et al. [Robson et al. (2004); J Med Genet 41:261–265] reported that epistatic interaction between rs1049296 (P589S) in the transferrin gene (TF) and rs1800562 (C282Y) in the hemochromatosis gene (HFE) results in significant association with risk for AD. In this study we attempted to replicate their findings in a total of 1,166 cases and 1,404 controls from three European and European American populations. Allele and genotype frequencies were consistent across the three populations. Using synergy factor analysis (SFA) and Logistic Regression analysis we tested each population and the combined sample for interactions between these two SNPs and risk for AD. We observed significant association between bi‐carriers of the minor alleles of rs1049296 and rs1800562 in the combined sample using SFA (P = 0.0016, synergy factor = 2.71) and adjusted SFA adjusting for age and presence of the APOE epsilon 4 allele (P = 0.002, OR = 2.4). These results validate those of the previous report and support the hypothesis that iron transport and regulation play a role in AD pathology. © 2009 Wiley‐Liss, Inc.</abstract><qualityIndicators><score>5.828</score><pdfVersion>1.3</pdfVersion><pdfPageSize>594 x 792 pts</pdfPageSize><refBibsNative>true</refBibsNative><keywordCount>5</keywordCount><abstractCharCount>1283</abstractCharCount><pdfWordCount>3488</pdfWordCount><pdfCharCount>22588</pdfCharCount><pdfPageCount>5</pdfPageCount><abstractWordCount>195</abstractWordCount></qualityIndicators><title>Suggestive synergy between genetic variants in TF and HFE as risk factors for Alzheimer's disease</title><corporate><json:item><name>the Alzheimer's Disease Neuroimaging Initiative</name></json:item></corporate><genre><json:string>brief communication</json:string></genre><host><volume>153B</volume><publisherId><json:string>AJMG</json:string></publisherId><pages><total>5</total><last>959</last><first>955</first></pages><issn><json:string>1552-4841</json:string></issn><issue>4</issue><subject><json:item><value>Brief Research Communication</value></json:item></subject><genre><json:string>Journal</json:string></genre><language><json:string>unknown</json:string></language><eissn><json:string>1552-485X</json:string></eissn><title>American Journal of Medical Genetics Part B: Neuropsychiatric Genetics</title><doi><json:string>10.1002/(ISSN)1552-485X</json:string></doi></host><publicationDate>2010</publicationDate><copyrightDate>2010</copyrightDate><doi><json:string>10.1002/ajmg.b.31053</json:string></doi><id>9ECBDF207BCE2D318332DA8C420BEFDB7BEF7BB1</id><fulltext><json:item><original>true</original><mimetype>application/pdf</mimetype><extension>pdf</extension><uri>https://api.istex.fr/document/9ECBDF207BCE2D318332DA8C420BEFDB7BEF7BB1/fulltext/pdf</uri></json:item><json:item><original>false</original><mimetype>application/zip</mimetype><extension>zip</extension><uri>https://api.istex.fr/document/9ECBDF207BCE2D318332DA8C420BEFDB7BEF7BB1/fulltext/zip</uri></json:item><istex:fulltextTEI uri="https://api.istex.fr/document/9ECBDF207BCE2D318332DA8C420BEFDB7BEF7BB1/fulltext/tei"><teiHeader><fileDesc><titleStmt><title level="a" type="main" xml:lang="en">Suggestive synergy between genetic variants in TF and HFE as risk factors for Alzheimer's disease</title></titleStmt><publicationStmt><authority>ISTEX</authority><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><availability><p>WILEY</p></availability><date>2010</date></publicationStmt><notesStmt><note type="content">*How to Cite this Article: Kauwe JSK, Bertelsen S, Mayo K, Cruchaga C, Abraham R, Hollingworth P, Harold D, Owen MJ, Williams J, Lovestone S, Morris JC, Goate AM, Alzheimer's Disease Neuroimaging Initiative. 2010. Suggestive Synergy Between Genetic Variants in TF and HFE as Risk Factors for Alzheimer's Disease. Am J Med Genet Part B 153B: 955–959.</note><note>National Institutes of Health (Washington University) - No. P50‐AG05681; No. P01‐AG03991; No. P01‐AG026276; No. R01‐AG16208; No. P30‐N5057105; No. 1‐TL1‐RR024995‐01; No. 1‐KL2‐RR024994‐01;</note><note>Barnes Jewish Foundation</note><note>American Health Assistance Foundation - No. UL1 RR024992;</note><note>National Center for Research Resources (NCRR)</note><note>National Institutes of Health (NIH)</note><note>NIH Roadmap for Medical Research</note><note>NIH - No. U01 AG024904;</note><note>National Institute of Biomedical Imaging and Bioengineering (NIBIB)</note></notesStmt><sourceDesc><biblStruct type="inbook"><analytic><title level="a" type="main" xml:lang="en">Suggestive synergy between genetic variants in TF and HFE as risk factors for Alzheimer's disease</title><author><orgName>the Alzheimer's Disease Neuroimaging Initiative</orgName></author><author><persName><forename type="first">J.S.K.</forename><surname>Kauwe</surname></persName><affiliation>Department of Psychiatry & Neurology, Washington University School of Medicine, St. Louis, Missouri</affiliation><affiliation>Current Address: Assistant Professor, Department of Biology, Brigham Young University, Provo, UT 84602.</affiliation></author><author><persName><forename type="first">S.</forename><surname>Bertelsen</surname></persName><affiliation>Department of Psychiatry & Neurology, Washington University School of Medicine, St. Louis, Missouri</affiliation></author><author><persName><forename type="first">K.</forename><surname>Mayo</surname></persName><affiliation>Department of Psychiatry & Neurology, Washington University School of Medicine, St. Louis, Missouri</affiliation></author><author><persName><forename type="first">C.</forename><surname>Cruchaga</surname></persName><affiliation>Department of Psychiatry & Neurology, Washington University School of Medicine, St. Louis, Missouri</affiliation></author><author><persName><forename type="first">R.</forename><surname>Abraham</surname></persName><affiliation>Department of Psychological Medicine, MRC Centre for Neuropsychiatric Genetics and Genomics, School of Medicine, Cardiff University, Cardiff, UK</affiliation></author><author><persName><forename type="first">P.</forename><surname>Hollingworth</surname></persName><affiliation>Department of Psychological Medicine, MRC Centre for Neuropsychiatric Genetics and Genomics, School of Medicine, Cardiff University, Cardiff, UK</affiliation></author><author><persName><forename type="first">D.</forename><surname>Harold</surname></persName><affiliation>Department of Psychological Medicine, MRC Centre for Neuropsychiatric Genetics and Genomics, School of Medicine, Cardiff University, Cardiff, UK</affiliation></author><author><persName><forename type="first">M.J.</forename><surname>Owen</surname></persName><affiliation>Department of Psychological Medicine, MRC Centre for Neuropsychiatric Genetics and Genomics, School of Medicine, Cardiff University, Cardiff, UK</affiliation></author><author><persName><forename type="first">J.</forename><surname>Williams</surname></persName><affiliation>Department of Psychological Medicine, MRC Centre for Neuropsychiatric Genetics and Genomics, School of Medicine, Cardiff University, Cardiff, UK</affiliation></author><author><persName><forename type="first">S.</forename><surname>Lovestone</surname></persName><affiliation>Department of Neuroscience, Institute of Psychiatry, Kings College, London, UK</affiliation></author><author><persName><forename type="first">J.C.</forename><surname>Morris</surname></persName><affiliation>Department of Psychiatry & Neurology, Washington University School of Medicine, St. Louis, Missouri</affiliation></author><author><persName><forename type="first">A.M.</forename><surname>Goate</surname></persName><note type="correspondence"><p>Correspondence: Samuel & Mae S. Ludwig Professor, Department of Psychiatry, Washington University School of Medicine, St. Louis, MO 63110.</p></note><affiliation>Department of Psychiatry & Neurology, Washington University School of Medicine, St. Louis, Missouri</affiliation></author></analytic><monogr><title level="j">American Journal of Medical Genetics Part B: Neuropsychiatric Genetics</title><title level="j" type="abbrev">Am. J. Med. Genet.</title><idno type="pISSN">1552-4841</idno><idno type="eISSN">1552-485X</idno><idno type="DOI">10.1002/(ISSN)1552-485X</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2010-06"></date><biblScope unit="volume">153B</biblScope><biblScope unit="issue">4</biblScope><biblScope unit="page" from="955">955</biblScope><biblScope unit="page" to="959">959</biblScope></imprint></monogr><idno type="istex">9ECBDF207BCE2D318332DA8C420BEFDB7BEF7BB1</idno><idno type="DOI">10.1002/ajmg.b.31053</idno><idno type="ArticleID">AJMG31053</idno></biblStruct></sourceDesc></fileDesc><profileDesc><creation><date>2010</date></creation><langUsage><language ident="en">en</language></langUsage><abstract xml:lang="fr"><p>Alzheimer's disease (AD) is a complex disease that is likely influenced by many genetic and environmental factors. Citing evidence that iron may play a role in AD pathology, Robson et al. [Robson et al. (2004); J Med Genet 41:261–265] reported that epistatic interaction between rs1049296 (P589S) in the transferrin gene (TF) and rs1800562 (C282Y) in the hemochromatosis gene (HFE) results in significant association with risk for AD. In this study we attempted to replicate their findings in a total of 1,166 cases and 1,404 controls from three European and European American populations. Allele and genotype frequencies were consistent across the three populations. Using synergy factor analysis (SFA) and Logistic Regression analysis we tested each population and the combined sample for interactions between these two SNPs and risk for AD. We observed significant association between bi‐carriers of the minor alleles of rs1049296 and rs1800562 in the combined sample using SFA (P = 0.0016, synergy factor = 2.71) and adjusted SFA adjusting for age and presence of the APOE epsilon 4 allele (P = 0.002, OR = 2.4). These results validate those of the previous report and support the hypothesis that iron transport and regulation play a role in AD pathology. © 2009 Wiley‐Liss, Inc.</p></abstract><textClass xml:lang="en"><keywords scheme="keyword"><list><head>Keywords</head><item><term>transferrin</term></item><item><term>hemachromatosis gene</term></item><item><term>Alzheimer's disease</term></item><item><term>epistasis</term></item><item><term>genetic association</term></item></list></keywords></textClass><textClass><keywords scheme="Journal Subject"><list><head>article category</head><item><term>Brief Research Communication</term></item></list></keywords></textClass></profileDesc><revisionDesc><change when="2009-06-19">Received</change><change when="2009-10-27">Registration</change><change when="2010-06">Published</change></revisionDesc></teiHeader></istex:fulltextTEI><json:item><original>false</original><mimetype>text/plain</mimetype><extension>txt</extension><uri>https://api.istex.fr/document/9ECBDF207BCE2D318332DA8C420BEFDB7BEF7BB1/fulltext/txt</uri></json:item></fulltext><metadata><istex:metadataXml wicri:clean="Wiley, elements deleted: body"><istex:xmlDeclaration>version="1.0" encoding="UTF-8" standalone="yes"</istex:xmlDeclaration><istex:document><component version="2.0" type="serialArticle" xml:lang="en"><header><publicationMeta level="product"><publisherInfo><publisherName>Wiley Subscription Services, Inc., A Wiley Company</publisherName><publisherLoc>Hoboken</publisherLoc></publisherInfo><doi registered="yes">10.1002/(ISSN)1552-485X</doi><issn type="print">1552-4841</issn><issn type="electronic">1552-485X</issn><idGroup><id type="product" value="AJMG"></id></idGroup><titleGroup><title type="main" xml:lang="en" sort="AMERICAN JOURNAL OF MEDICAL GENETICS PART B: NEUROPSYCHIATRIC GENETICS">American Journal of Medical Genetics Part B: Neuropsychiatric Genetics</title><title type="short">Am. J. Med. Genet.</title></titleGroup><selfCitationGroup><citation type="ancestor" xml:id="cit1"><journalTitle>American Journal of Medical Genetics</journalTitle><accessionId ref="info:x-wiley/issn/01487299">0148-7299</accessionId><accessionId ref="info:x-wiley/issn/10968628">1096-8628</accessionId><pubYear year="2004">2004</pubYear></citation></selfCitationGroup></publicationMeta><publicationMeta level="part" position="40"><doi origin="wiley" registered="yes">10.1002/ajmg.b.v153b:4</doi><numberingGroup><numbering type="journalVolume" number="153">153B</numbering><numbering type="journalIssue">4</numbering></numberingGroup><coverDate startDate="2010-06">June 2010</coverDate></publicationMeta><publicationMeta level="unit" type="shortCommunication" position="110" status="forIssue"><doi origin="wiley" registered="yes">10.1002/ajmg.b.31053</doi><idGroup><id type="unit" value="AJMG31053"></id></idGroup><countGroup><count type="pageTotal" number="5"></count></countGroup><titleGroup><title type="articleCategory">Brief Research Communication</title><title type="tocHeading1">Brief Research Communications</title></titleGroup><copyright ownership="publisher">Copyright © 2009 Wiley‐Liss, Inc.</copyright><eventGroup><event type="manuscriptReceived" date="2009-06-19"></event><event type="manuscriptAccepted" date="2009-10-27"></event><event type="firstOnline" date="2009-12-22"></event><event type="publishedOnlineFinalForm" date="2010-05-17"></event><event type="publishedOnlineAcceptedOrEarlyUnpaginated" date="2009-12-22"></event><event type="xmlConverted" agent="Converter:JWSART34_TO_WML3G version:2.4.7 mode:FullText source:FullText result:FullText" date="2011-02-24"></event><event type="xmlConverted" agent="Converter:WILEY_ML3G_TO_WILEY_ML3GV2 version:3.8.8" date="2014-01-02"></event><event type="xmlConverted" agent="Converter:WML3G_To_WML3G version:4.1.7 mode:FullText,remove_FC" date="2014-10-14"></event></eventGroup><numberingGroup><numbering type="pageFirst">955</numbering><numbering type="pageLast">959</numbering></numberingGroup><correspondenceTo>Samuel & Mae S. Ludwig Professor, Department of Psychiatry, Washington University School of Medicine, St. Louis, MO 63110.</correspondenceTo><linkGroup><link type="toTypesetVersion" href="file:AJMG.AJMG31053.pdf"></link></linkGroup></publicationMeta><contentMeta><countGroup><count type="figureTotal" number="0"></count><count type="tableTotal" number="3"></count><count type="referenceTotal" number="39"></count><count type="wordTotal" number="3992"></count></countGroup><titleGroup><title type="main" xml:lang="en">Suggestive synergy between genetic variants in TF and HFE as risk factors for Alzheimer's disease<link href="#fn1"></link></title></titleGroup><creators><creator xml:id="au1" creatorRole="author" affiliationRef="#af1" currentRef="#curr1"><personName><givenNames>J.S.K.</givenNames><familyName>Kauwe</familyName></personName></creator><creator xml:id="au2" creatorRole="author" affiliationRef="#af1"><personName><givenNames>S.</givenNames><familyName>Bertelsen</familyName></personName></creator><creator xml:id="au3" creatorRole="author" affiliationRef="#af1"><personName><givenNames>K.</givenNames><familyName>Mayo</familyName></personName></creator><creator xml:id="au4" creatorRole="author" affiliationRef="#af1"><personName><givenNames>C.</givenNames><familyName>Cruchaga</familyName></personName></creator><creator xml:id="au5" creatorRole="author" affiliationRef="#af2"><personName><givenNames>R.</givenNames><familyName>Abraham</familyName></personName></creator><creator xml:id="au6" creatorRole="author" affiliationRef="#af2"><personName><givenNames>P.</givenNames><familyName>Hollingworth</familyName></personName></creator><creator xml:id="au7" creatorRole="author" affiliationRef="#af2"><personName><givenNames>D.</givenNames><familyName>Harold</familyName></personName></creator><creator xml:id="au8" creatorRole="author" affiliationRef="#af2"><personName><givenNames>M.J.</givenNames><familyName>Owen</familyName></personName></creator><creator xml:id="au9" creatorRole="author" affiliationRef="#af2"><personName><givenNames>J.</givenNames><familyName>Williams</familyName></personName></creator><creator xml:id="au10" creatorRole="author" affiliationRef="#af3"><personName><givenNames>S.</givenNames><familyName>Lovestone</familyName></personName></creator><creator xml:id="au11" creatorRole="author" affiliationRef="#af1"><personName><givenNames>J.C.</givenNames><familyName>Morris</familyName></personName></creator><creator xml:id="au12" creatorRole="author" affiliationRef="#af1" corresponding="yes"><personName><givenNames>A.M.</givenNames><familyName>Goate</familyName></personName><contactDetails><email>goatea@psychiatry.wustl.edu</email></contactDetails></creator><creator xml:id="au13" creatorRole="author" noteRef="#fn2"><groupName>the Alzheimer's Disease Neuroimaging Initiative</groupName></creator></creators><affiliationGroup><affiliation xml:id="af1" countryCode="US" type="organization"><unparsedAffiliation>Department of Psychiatry & Neurology, Washington University School of Medicine, St. Louis, Missouri</unparsedAffiliation></affiliation><affiliation xml:id="af2" countryCode="GB" type="organization"><unparsedAffiliation>Department of Psychological Medicine, MRC Centre for Neuropsychiatric Genetics and Genomics, School of Medicine, Cardiff University, Cardiff, UK</unparsedAffiliation></affiliation><affiliation xml:id="af3" countryCode="GB" type="organization"><unparsedAffiliation>Department of Neuroscience, Institute of Psychiatry, Kings College, London, UK</unparsedAffiliation></affiliation><affiliation xml:id="curr1"><unparsedAffiliation>Assistant Professor, Department of Biology, Brigham Young University, Provo, UT 84602.</unparsedAffiliation></affiliation></affiliationGroup><keywordGroup xml:lang="en" type="author"><keyword xml:id="kwd1">transferrin</keyword><keyword xml:id="kwd2">hemachromatosis gene</keyword><keyword xml:id="kwd3">Alzheimer's disease</keyword><keyword xml:id="kwd4">epistasis</keyword><keyword xml:id="kwd5">genetic association</keyword></keywordGroup><fundingInfo><fundingAgency>National Institutes of Health (Washington University)</fundingAgency><fundingNumber>P50‐AG05681</fundingNumber><fundingNumber>P01‐AG03991</fundingNumber><fundingNumber>P01‐AG026276</fundingNumber><fundingNumber>R01‐AG16208</fundingNumber><fundingNumber>P30‐N5057105</fundingNumber><fundingNumber>1‐TL1‐RR024995‐01</fundingNumber><fundingNumber>1‐KL2‐RR024994‐01</fundingNumber></fundingInfo><fundingInfo><fundingAgency>Barnes Jewish Foundation</fundingAgency></fundingInfo><fundingInfo><fundingAgency>American Health Assistance Foundation</fundingAgency><fundingNumber>UL1 RR024992</fundingNumber></fundingInfo><fundingInfo><fundingAgency>National Center for Research Resources (NCRR)</fundingAgency></fundingInfo><fundingInfo><fundingAgency>National Institutes of Health (NIH)</fundingAgency></fundingInfo><fundingInfo><fundingAgency>NIH Roadmap for Medical Research</fundingAgency></fundingInfo><fundingInfo><fundingAgency>NIH</fundingAgency><fundingNumber>U01 AG024904</fundingNumber></fundingInfo><fundingInfo><fundingAgency>National Institute of Biomedical Imaging and Bioengineering (NIBIB)</fundingAgency></fundingInfo><abstractGroup><abstract type="main" xml:lang="fr"><title type="main">Abstract</title><p>Alzheimer's disease (AD) is a complex disease that is likely influenced by many genetic and environmental factors. Citing evidence that iron may play a role in AD pathology, Robson et al. [Robson et al. (<link href="#bib31">2004</link>); J Med Genet 41:261–265] reported that epistatic interaction between rs1049296 (P589S) in the transferrin gene (<i>TF</i>) and rs1800562 (C282Y) in the hemochromatosis gene (<i>HFE</i>) results in significant association with risk for AD. In this study we attempted to replicate their findings in a total of 1,166 cases and 1,404 controls from three European and European American populations. Allele and genotype frequencies were consistent across the three populations. Using synergy factor analysis (SFA) and Logistic Regression analysis we tested each population and the combined sample for interactions between these two SNPs and risk for AD. We observed significant association between bi‐carriers of the minor alleles of rs1049296 and rs1800562 in the combined sample using SFA (<i>P</i> = 0.0016, synergy factor = 2.71) and adjusted SFA adjusting for age and presence of the APOE epsilon 4 allele (<i>P</i> = 0.002, OR = 2.4). These results validate those of the previous report and support the hypothesis that iron transport and regulation play a role in AD pathology. © 2009 Wiley‐Liss, Inc.</p></abstract></abstractGroup></contentMeta><noteGroup><note xml:id="fn1"><p>How to Cite this Article: Kauwe JSK, Bertelsen S, Mayo K, Cruchaga C, Abraham R, Hollingworth P, Harold D, Owen MJ, Williams J, Lovestone S, Morris JC, Goate AM, Alzheimer's Disease Neuroimaging Initiative. 2010. Suggestive Synergy Between Genetic Variants in TF and HFE as Risk Factors for Alzheimer's Disease. Am J Med Genet Part B 153B: 955–959.</p></note><note xml:id="fn2"><p>Some of the data used in the preparation of this article were obtained from the Alzheimer's disease neuroimaging initiative (ADNI) database (<url href="http://www.loni.ucla.edu\ADNI">www.loni.ucla.edu\ADNI</url>). As such, the investigators within the ADNI contributed to the design and implementation of ADNI and/or provided data but did not participate in analysis or writing of this report. ADNI investigators include (complete listing available at <url href="http://www.loni.ucla.edu/ADNI/About/About_Investigators.shtml">http://www.loni.ucla.edu/ADNI/About/About_Investigators.shtml</url>).</p></note></noteGroup></header></component></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>Suggestive synergy between genetic variants in TF and HFE as risk factors for Alzheimer's disease</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Suggestive synergy between genetic variants in TF and HFE as risk factors for Alzheimer's disease</title></titleInfo><name type="personal"><namePart type="given">J.S.K.</namePart><namePart type="family">Kauwe</namePart><affiliation>Department of Psychiatry & Neurology, Washington University School of Medicine, St. Louis, Missouri</affiliation><affiliation>Current Address: Assistant Professor, Department of Biology, Brigham Young University, Provo, UT 84602.</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">S.</namePart><namePart type="family">Bertelsen</namePart><affiliation>Department of Psychiatry & Neurology, Washington University School of Medicine, St. Louis, Missouri</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">K.</namePart><namePart type="family">Mayo</namePart><affiliation>Department of Psychiatry & Neurology, Washington University School of Medicine, St. Louis, Missouri</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">C.</namePart><namePart type="family">Cruchaga</namePart><affiliation>Department of Psychiatry & Neurology, Washington University School of Medicine, St. Louis, Missouri</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">R.</namePart><namePart type="family">Abraham</namePart><affiliation>Department of Psychological Medicine, MRC Centre for Neuropsychiatric Genetics and Genomics, School of Medicine, Cardiff University, Cardiff, UK</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">P.</namePart><namePart type="family">Hollingworth</namePart><affiliation>Department of Psychological Medicine, MRC Centre for Neuropsychiatric Genetics and Genomics, School of Medicine, Cardiff University, Cardiff, UK</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">D.</namePart><namePart type="family">Harold</namePart><affiliation>Department of Psychological Medicine, MRC Centre for Neuropsychiatric Genetics and Genomics, School of Medicine, Cardiff University, Cardiff, UK</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">M.J.</namePart><namePart type="family">Owen</namePart><affiliation>Department of Psychological Medicine, MRC Centre for Neuropsychiatric Genetics and Genomics, School of Medicine, Cardiff University, Cardiff, UK</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">J.</namePart><namePart type="family">Williams</namePart><affiliation>Department of Psychological Medicine, MRC Centre for Neuropsychiatric Genetics and Genomics, School of Medicine, Cardiff University, Cardiff, UK</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">S.</namePart><namePart type="family">Lovestone</namePart><affiliation>Department of Neuroscience, Institute of Psychiatry, Kings College, London, UK</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">J.C.</namePart><namePart type="family">Morris</namePart><affiliation>Department of Psychiatry & Neurology, Washington University School of Medicine, St. Louis, Missouri</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">A.M.</namePart><namePart type="family">Goate</namePart><affiliation>Department of Psychiatry & Neurology, Washington University School of Medicine, St. Louis, Missouri</affiliation><description>Correspondence: Samuel & Mae S. Ludwig Professor, Department of Psychiatry, Washington University School of Medicine, St. Louis, MO 63110.</description><role><roleTerm type="text">author</roleTerm></role></name><name type="corporate"><namePart>the Alzheimer's Disease Neuroimaging Initiative</namePart><description>Department of Psychiatry & Neurology, Washington University School of Medicine, St. Louis, MissouriDepartment of Psychological Medicine, MRC Centre for Neuropsychiatric Genetics and Genomics, School of Medicine, Cardiff University, Cardiff, UKDepartment of Neuroscience, Institute of Psychiatry, Kings College, London, UKAssistant Professor, Department of Biology, Brigham Young University, Provo, UT 84602.</description></name><typeOfResource>text</typeOfResource><genre type="brief communication" displayLabel="shortCommunication"></genre><originInfo><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><place><placeTerm type="text">Hoboken</placeTerm></place><dateIssued encoding="w3cdtf">2010-06</dateIssued><dateCaptured encoding="w3cdtf">2009-06-19</dateCaptured><dateValid encoding="w3cdtf">2009-10-27</dateValid><copyrightDate encoding="w3cdtf">2010</copyrightDate></originInfo><language><languageTerm type="code" authority="rfc3066">en</languageTerm><languageTerm type="code" authority="iso639-2b">eng</languageTerm></language><physicalDescription><internetMediaType>text/html</internetMediaType><extent unit="tables">3</extent><extent unit="references">39</extent><extent unit="words">3992</extent></physicalDescription><abstract lang="fr">Alzheimer's disease (AD) is a complex disease that is likely influenced by many genetic and environmental factors. Citing evidence that iron may play a role in AD pathology, Robson et al. [Robson et al. (2004); J Med Genet 41:261–265] reported that epistatic interaction between rs1049296 (P589S) in the transferrin gene (TF) and rs1800562 (C282Y) in the hemochromatosis gene (HFE) results in significant association with risk for AD. In this study we attempted to replicate their findings in a total of 1,166 cases and 1,404 controls from three European and European American populations. Allele and genotype frequencies were consistent across the three populations. Using synergy factor analysis (SFA) and Logistic Regression analysis we tested each population and the combined sample for interactions between these two SNPs and risk for AD. We observed significant association between bi‐carriers of the minor alleles of rs1049296 and rs1800562 in the combined sample using SFA (P = 0.0016, synergy factor = 2.71) and adjusted SFA adjusting for age and presence of the APOE epsilon 4 allele (P = 0.002, OR = 2.4). These results validate those of the previous report and support the hypothesis that iron transport and regulation play a role in AD pathology. © 2009 Wiley‐Liss, Inc.</abstract><note type="content">*How to Cite this Article: Kauwe JSK, Bertelsen S, Mayo K, Cruchaga C, Abraham R, Hollingworth P, Harold D, Owen MJ, Williams J, Lovestone S, Morris JC, Goate AM, Alzheimer's Disease Neuroimaging Initiative. 2010. Suggestive Synergy Between Genetic Variants in TF and HFE as Risk Factors for Alzheimer's Disease. Am J Med Genet Part B 153B: 955–959.</note><note type="funding">National Institutes of Health (Washington University) - No. P50‐AG05681; No. P01‐AG03991; No. P01‐AG026276; No. R01‐AG16208; No. P30‐N5057105; No. 1‐TL1‐RR024995‐01; No. 1‐KL2‐RR024994‐01; </note><note type="funding">Barnes Jewish Foundation</note><note type="funding">American Health Assistance Foundation - No. UL1 RR024992; </note><note type="funding">National Center for Research Resources (NCRR)</note><note type="funding">National Institutes of Health (NIH)</note><note type="funding">NIH Roadmap for Medical Research</note><note type="funding">NIH - No. U01 AG024904; </note><note type="funding">National Institute of Biomedical Imaging and Bioengineering (NIBIB)</note><subject lang="en"><genre>Keywords</genre><topic>transferrin</topic><topic>hemachromatosis gene</topic><topic>Alzheimer's disease</topic><topic>epistasis</topic><topic>genetic association</topic></subject><relatedItem type="host"><titleInfo><title>American Journal of Medical Genetics Part B: Neuropsychiatric Genetics</title></titleInfo><titleInfo type="abbreviated"><title>Am. J. Med. Genet.</title></titleInfo><genre type="Journal">journal</genre><subject><genre>article category</genre><topic>Brief Research Communication</topic></subject><identifier type="ISSN">1552-4841</identifier><identifier type="eISSN">1552-485X</identifier><identifier type="DOI">10.1002/(ISSN)1552-485X</identifier><identifier type="PublisherID">AJMG</identifier><part><date>2010</date><detail type="volume"><caption>vol.</caption><number>153B</number></detail><detail type="issue"><caption>no.</caption><number>4</number></detail><extent unit="pages"><start>955</start><end>959</end><total>5</total></extent></part></relatedItem><relatedItem type="preceding"><titleInfo><title>American Journal of Medical Genetics</title></titleInfo><identifier type="ISSN">0148-7299</identifier><identifier type="ISSN">1096-8628</identifier><part><date point="end">2004</date></part></relatedItem><identifier type="istex">9ECBDF207BCE2D318332DA8C420BEFDB7BEF7BB1</identifier><identifier type="DOI">10.1002/ajmg.b.31053</identifier><identifier type="ArticleID">AJMG31053</identifier><accessCondition type="use and reproduction" contentType="copyright">Copyright © 2009 Wiley‐Liss, Inc.</accessCondition><recordInfo><recordContentSource>WILEY</recordContentSource><recordOrigin>Wiley Subscription Services, Inc., A Wiley Company</recordOrigin></recordInfo></mods></metadata><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
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