NURR1 promoter polymorphisms: Parkinson's disease, schizophrenia, and personality traits
Identifieur interne : 000E38 ( Main/Corpus ); précédent : 000E37; suivant : 000E39NURR1 promoter polymorphisms: Parkinson's disease, schizophrenia, and personality traits
Auteurs : Andrea Carmine ; Silvia Buervenich ; Dagmar Galter ; Erik G. Jönsson ; Göran C. Sedvall ; Lars Farde ; J. Petter Gustavsson ; Hans Bergman ; Kodavali V. Chowdari ; Vishwajit L. Nimgaonkar ; Maria Anvret ; Olof Sydow ; Lars OlsonSource :
- American Journal of Medical Genetics Part B: Neuropsychiatric Genetics [ 1552-4841 ] ; 2003-07-01.
English descriptors
Abstract
We have previously identified mutations in exon three in NURR1 (NR4A2) in two patients with schizophrenia (SZ) and one patient with bipolar disease with psychotic symptoms. In the present study we analyzed the promoter region of NURR1 and identified five polymorphic sites: three were found to be in strong linkage disequilibrium with a previously identified polymorphic site in the sixth intron. One polymorphism of this haplotype and the two other independent polymorphisms were investigated for their possible association with SZ and Parkinson's disease (PD) by comparing their frequencies in a Swedish material consisting of 134 subjects with SZ and 207 matched controls and 108 subjects with PD and 125 matched controls. Exon 1 was also investigated in our Parkinson and control material but no variances were found. The distributions of the two most informative polymorphisms in the promoter were investigated in an American material as well consisting of 141 subjects with SZ and 139 matched controls. Furthermore, the identified markers were screened for association with putative endophenotypes of SZ in the Swedish material. The distribution of sequence variants among the Swedish controls matched for SZ was investigated with regard to personality. No significant genotype or allelic association of the three sequence variants with SZ or PD was found. Several comparisons regarding endophenotypes or personality indicated association at the 5% confidence level, although correction for multiple testing rendered none of these findings significant. We conclude that the identified polymorphic sites in the human NURR1 are unlikely to be involved in conferring susceptibility for SZ or PD in our patient material. © 2003 Wiley‐Liss, Inc.
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DOI: 10.1002/ajmg.b.20033
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Jönsson</name><affiliation><mods:affiliation>HUBIN project, Department of Clinical Neuroscience, Psychiatry Section, Karolinska Institutet, Stockholm, Sweden</mods:affiliation></affiliation></author><author><name sortKey="Sedvall, Goran C" sort="Sedvall, Goran C" uniqKey="Sedvall G" first="Göran C." last="Sedvall">Göran C. Sedvall</name><affiliation><mods:affiliation>HUBIN project, Department of Clinical Neuroscience, Psychiatry Section, Karolinska Institutet, Stockholm, Sweden</mods:affiliation></affiliation></author><author><name sortKey="Farde, Lars" sort="Farde, Lars" uniqKey="Farde L" first="Lars" last="Farde">Lars Farde</name><affiliation><mods:affiliation>HUBIN project, Department of Clinical Neuroscience, Psychiatry Section, Karolinska Institutet, Stockholm, Sweden</mods:affiliation></affiliation></author><author><name sortKey="Gustavsson, J Petter" sort="Gustavsson, J Petter" uniqKey="Gustavsson J" first="J. Petter" last="Gustavsson">J. Petter Gustavsson</name><affiliation><mods:affiliation>Department of Nursing, Karolinska Institutet, Stockholm, Sweden</mods:affiliation></affiliation></author><author><name sortKey="Bergman, Hans" sort="Bergman, Hans" uniqKey="Bergman H" first="Hans" last="Bergman">Hans Bergman</name><affiliation><mods:affiliation>Department of Clinical Neuroscience, Clinical Alcohol and Drug Addiction Research Section, Karolinska Institutet, Stockholm, Sweden</mods:affiliation></affiliation></author><author><name sortKey="Chowdari, Kodavali V" sort="Chowdari, Kodavali V" uniqKey="Chowdari K" first="Kodavali V." last="Chowdari">Kodavali V. Chowdari</name><affiliation><mods:affiliation>Department of Psychiatry, University of Pittsburgh, Pittsburgh, Pennsylvania</mods:affiliation></affiliation></author><author><name sortKey="Nimgaonkar, Vishwajit L" sort="Nimgaonkar, Vishwajit L" uniqKey="Nimgaonkar V" first="Vishwajit L." last="Nimgaonkar">Vishwajit L. Nimgaonkar</name><affiliation><mods:affiliation>Department of Psychiatry, University of Pittsburgh, Pittsburgh, Pennsylvania</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Human Genetics, University of Pittsburgh, Pittsburgh, Pennsylvania</mods:affiliation></affiliation></author><author><name sortKey="Anvret, Maria" sort="Anvret, Maria" uniqKey="Anvret M" first="Maria" last="Anvret">Maria Anvret</name><affiliation><mods:affiliation>Department of Clinical Neuroscience, Neurology Section, Karolinska Institutet, Stockholm, Sweden</mods:affiliation></affiliation><affiliation><mods:affiliation>Current Address: AstraZeneca R&D, Södertälje, Sweden.</mods:affiliation></affiliation></author><author><name sortKey="Sydow, Olof" sort="Sydow, Olof" uniqKey="Sydow O" first="Olof" last="Sydow">Olof Sydow</name><affiliation><mods:affiliation>Department of Clinical Neuroscience, Neurology Section, Karolinska Institutet, Stockholm, Sweden</mods:affiliation></affiliation></author><author><name sortKey="Olson, Lars" sort="Olson, Lars" uniqKey="Olson L" first="Lars" last="Olson">Lars Olson</name><affiliation><mods:affiliation>Department of Neuroscience, Karolinska Institutet, Stockholm, Sweden</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="2003-07-01">2003-07-01</date><biblScope unit="volume">120B</biblScope><biblScope unit="issue">1</biblScope><biblScope unit="page" from="51">51</biblScope><biblScope unit="page" to="57">57</biblScope></imprint><idno type="ISSN">1552-4841</idno></series><idno type="istex">E6368E71360094BADB83079F33818D038771C384</idno><idno type="DOI">10.1002/ajmg.b.20033</idno><idno type="ArticleID">AJMG20033</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">1552-4841</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>association</term><term>cerebrospinal fluid</term><term>dopamine</term><term>genetics</term><term>positron emission tomography</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">We have previously identified mutations in exon three in NURR1 (NR4A2) in two patients with schizophrenia (SZ) and one patient with bipolar disease with psychotic symptoms. In the present study we analyzed the promoter region of NURR1 and identified five polymorphic sites: three were found to be in strong linkage disequilibrium with a previously identified polymorphic site in the sixth intron. One polymorphism of this haplotype and the two other independent polymorphisms were investigated for their possible association with SZ and Parkinson's disease (PD) by comparing their frequencies in a Swedish material consisting of 134 subjects with SZ and 207 matched controls and 108 subjects with PD and 125 matched controls. Exon 1 was also investigated in our Parkinson and control material but no variances were found. The distributions of the two most informative polymorphisms in the promoter were investigated in an American material as well consisting of 141 subjects with SZ and 139 matched controls. Furthermore, the identified markers were screened for association with putative endophenotypes of SZ in the Swedish material. The distribution of sequence variants among the Swedish controls matched for SZ was investigated with regard to personality. No significant genotype or allelic association of the three sequence variants with SZ or PD was found. Several comparisons regarding endophenotypes or personality indicated association at the 5% confidence level, although correction for multiple testing rendered none of these findings significant. We conclude that the identified polymorphic sites in the human NURR1 are unlikely to be involved in conferring susceptibility for SZ or PD in our patient material. © 2003 Wiley‐Liss, Inc.</div></front></TEI><istex><corpusName>wiley</corpusName><author><json:item><name>Andrea Carmine</name><affiliations><json:string>Department of Neuroscience, Karolinska Institutet, Stockholm, Sweden</json:string><json:string>Department of Molecular Medicine, Karolinska Institutet, Stockholm, Sweden</json:string></affiliations></json:item><json:item><name>Silvia Buervenich</name><affiliations><json:string>Department of Neuroscience, Karolinska Institutet, Stockholm, Sweden</json:string><json:string>Department of Molecular Medicine, Karolinska Institutet, Stockholm, Sweden</json:string></affiliations></json:item><json:item><name>Dagmar Galter</name><affiliations><json:string>Department of Neuroscience, Karolinska Institutet, Stockholm, Sweden</json:string></affiliations></json:item><json:item><name>Erik G. Jönsson</name><affiliations><json:string>HUBIN project, Department of Clinical Neuroscience, Psychiatry Section, Karolinska Institutet, Stockholm, Sweden</json:string></affiliations></json:item><json:item><name>Göran C. Sedvall</name><affiliations><json:string>HUBIN project, Department of Clinical Neuroscience, Psychiatry Section, Karolinska Institutet, Stockholm, Sweden</json:string></affiliations></json:item><json:item><name>Lars Farde</name><affiliations><json:string>HUBIN project, Department of Clinical Neuroscience, Psychiatry Section, Karolinska Institutet, Stockholm, Sweden</json:string></affiliations></json:item><json:item><name>J. Petter Gustavsson</name><affiliations><json:string>Department of Nursing, Karolinska Institutet, Stockholm, Sweden</json:string></affiliations></json:item><json:item><name>Hans Bergman</name><affiliations><json:string>Department of Clinical Neuroscience, Clinical Alcohol and Drug Addiction Research Section, Karolinska Institutet, Stockholm, Sweden</json:string></affiliations></json:item><json:item><name>Kodavali V. Chowdari</name><affiliations><json:string>Department of Psychiatry, University of Pittsburgh, Pittsburgh, Pennsylvania</json:string></affiliations></json:item><json:item><name>Vishwajit L. Nimgaonkar</name><affiliations><json:string>Department of Psychiatry, University of Pittsburgh, Pittsburgh, Pennsylvania</json:string><json:string>Department of Human Genetics, University of Pittsburgh, Pittsburgh, Pennsylvania</json:string></affiliations></json:item><json:item><name>Maria Anvret</name><affiliations><json:string>Department of Clinical Neuroscience, Neurology Section, Karolinska Institutet, Stockholm, Sweden</json:string><json:string>Current Address: AstraZeneca R&D, Södertälje, Sweden.</json:string></affiliations></json:item><json:item><name>Olof Sydow</name><affiliations><json:string>Department of Clinical Neuroscience, Neurology Section, Karolinska Institutet, Stockholm, Sweden</json:string></affiliations></json:item><json:item><name>Lars Olson</name><affiliations><json:string>Department of Neuroscience, Karolinska Institutet, Stockholm, Sweden</json:string></affiliations></json:item></author><subject><json:item><lang><json:string>eng</json:string></lang><value>genetics</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>association</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>dopamine</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>cerebrospinal fluid</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>positron emission tomography</value></json:item></subject><articleId><json:string>AJMG20033</json:string></articleId><language><json:string>eng</json:string></language><abstract>We have previously identified mutations in exon three in NURR1 (NR4A2) in two patients with schizophrenia (SZ) and one patient with bipolar disease with psychotic symptoms. In the present study we analyzed the promoter region of NURR1 and identified five polymorphic sites: three were found to be in strong linkage disequilibrium with a previously identified polymorphic site in the sixth intron. One polymorphism of this haplotype and the two other independent polymorphisms were investigated for their possible association with SZ and Parkinson's disease (PD) by comparing their frequencies in a Swedish material consisting of 134 subjects with SZ and 207 matched controls and 108 subjects with PD and 125 matched controls. Exon 1 was also investigated in our Parkinson and control material but no variances were found. The distributions of the two most informative polymorphisms in the promoter were investigated in an American material as well consisting of 141 subjects with SZ and 139 matched controls. Furthermore, the identified markers were screened for association with putative endophenotypes of SZ in the Swedish material. The distribution of sequence variants among the Swedish controls matched for SZ was investigated with regard to personality. No significant genotype or allelic association of the three sequence variants with SZ or PD was found. Several comparisons regarding endophenotypes or personality indicated association at the 5% confidence level, although correction for multiple testing rendered none of these findings significant. We conclude that the identified polymorphic sites in the human NURR1 are unlikely to be involved in conferring susceptibility for SZ or PD in our patient material. © 2003 Wiley‐Liss, Inc.</abstract><qualityIndicators><score>6.934</score><pdfVersion>1.3</pdfVersion><pdfPageSize>594 x 792 pts</pdfPageSize><refBibsNative>true</refBibsNative><keywordCount>5</keywordCount><abstractCharCount>1746</abstractCharCount><pdfWordCount>3934</pdfWordCount><pdfCharCount>26368</pdfCharCount><pdfPageCount>7</pdfPageCount><abstractWordCount>263</abstractWordCount></qualityIndicators><title>NURR1 promoter polymorphisms: Parkinson's disease, schizophrenia, and personality traits</title><genre><json:string>article</json:string></genre><host><volume>120B</volume><publisherId><json:string>AJMG</json:string></publisherId><pages><total>7</total><last>57</last><first>51</first></pages><issn><json:string>1552-4841</json:string></issn><issue>1</issue><subject><json:item><value>Research Article</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>2003</publicationDate><copyrightDate>2003</copyrightDate><doi><json:string>10.1002/ajmg.b.20033</json:string></doi><id>E6368E71360094BADB83079F33818D038771C384</id><fulltext><json:item><original>true</original><mimetype>application/pdf</mimetype><extension>pdf</extension><uri>https://api.istex.fr/document/E6368E71360094BADB83079F33818D038771C384/fulltext/pdf</uri></json:item><json:item><original>false</original><mimetype>application/zip</mimetype><extension>zip</extension><uri>https://api.istex.fr/document/E6368E71360094BADB83079F33818D038771C384/fulltext/zip</uri></json:item><istex:fulltextTEI uri="https://api.istex.fr/document/E6368E71360094BADB83079F33818D038771C384/fulltext/tei"><teiHeader><fileDesc><titleStmt><title level="a" type="main" xml:lang="en">NURR1 promoter polymorphisms: Parkinson's disease, schizophrenia, and personality traits</title></titleStmt><publicationStmt><authority>ISTEX</authority><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><availability><p>WILEY</p></availability><date>2003</date></publicationStmt><notesStmt><note>Swedish Research Council, Karolinska Institutet, AstraZeneca, HUBIN project, Wallenberg Foundation, The Swedish Parkinson Foundation</note></notesStmt><sourceDesc><biblStruct type="inbook"><analytic><title level="a" type="main" xml:lang="en">NURR1 promoter polymorphisms: Parkinson's disease, schizophrenia, and personality traits</title><author><persName><forename type="first">Andrea</forename><surname>Carmine</surname></persName><affiliation>Department of Neuroscience, Karolinska Institutet, Stockholm, Sweden</affiliation><affiliation>Department of Molecular Medicine, Karolinska Institutet, Stockholm, Sweden</affiliation></author><author><persName><forename type="first">Silvia</forename><surname>Buervenich</surname></persName><affiliation>Department of Neuroscience, Karolinska Institutet, Stockholm, Sweden</affiliation><affiliation>Department of Molecular Medicine, Karolinska Institutet, Stockholm, Sweden</affiliation></author><author><persName><forename type="first">Dagmar</forename><surname>Galter</surname></persName><affiliation>Department of Neuroscience, Karolinska Institutet, Stockholm, Sweden</affiliation></author><author><persName><forename type="first">Erik G.</forename><surname>Jönsson</surname></persName><affiliation>HUBIN project, Department of Clinical Neuroscience, Psychiatry Section, Karolinska Institutet, Stockholm, Sweden</affiliation></author><author><persName><forename type="first">Göran C.</forename><surname>Sedvall</surname></persName><affiliation>HUBIN project, Department of Clinical Neuroscience, Psychiatry Section, Karolinska Institutet, Stockholm, Sweden</affiliation></author><author><persName><forename type="first">Lars</forename><surname>Farde</surname></persName><affiliation>HUBIN project, Department of Clinical Neuroscience, Psychiatry Section, Karolinska Institutet, Stockholm, Sweden</affiliation></author><author><persName><forename type="first">J. Petter</forename><surname>Gustavsson</surname></persName><affiliation>Department of Nursing, Karolinska Institutet, Stockholm, Sweden</affiliation></author><author><persName><forename type="first">Hans</forename><surname>Bergman</surname></persName><affiliation>Department of Clinical Neuroscience, Clinical Alcohol and Drug Addiction Research Section, Karolinska Institutet, Stockholm, Sweden</affiliation></author><author><persName><forename type="first">Kodavali V.</forename><surname>Chowdari</surname></persName><affiliation>Department of Psychiatry, University of Pittsburgh, Pittsburgh, Pennsylvania</affiliation></author><author><persName><forename type="first">Vishwajit L.</forename><surname>Nimgaonkar</surname></persName><affiliation>Department of Psychiatry, University of Pittsburgh, Pittsburgh, Pennsylvania</affiliation><affiliation>Department of Human Genetics, University of Pittsburgh, Pittsburgh, Pennsylvania</affiliation></author><author><persName><forename type="first">Maria</forename><surname>Anvret</surname></persName><affiliation>Department of Clinical Neuroscience, Neurology Section, Karolinska Institutet, Stockholm, Sweden</affiliation><affiliation>Current Address: AstraZeneca R&D, Södertälje, Sweden.</affiliation></author><author><persName><forename type="first">Olof</forename><surname>Sydow</surname></persName><affiliation>Department of Clinical Neuroscience, Neurology Section, Karolinska Institutet, Stockholm, Sweden</affiliation></author><author><persName><forename type="first">Lars</forename><surname>Olson</surname></persName><note type="correspondence"><p>Correspondence: Department of Neuroscience, Karolinska Institutet, 17177 Stockholm, Sweden.</p></note><affiliation>Department of Neuroscience, Karolinska Institutet, Stockholm, Sweden</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="2003-07-01"></date><biblScope unit="volume">120B</biblScope><biblScope unit="issue">1</biblScope><biblScope unit="page" from="51">51</biblScope><biblScope unit="page" to="57">57</biblScope></imprint></monogr><idno type="istex">E6368E71360094BADB83079F33818D038771C384</idno><idno type="DOI">10.1002/ajmg.b.20033</idno><idno type="ArticleID">AJMG20033</idno></biblStruct></sourceDesc></fileDesc><profileDesc><creation><date>2003</date></creation><langUsage><language ident="en">en</language></langUsage><abstract xml:lang="en"><p>We have previously identified mutations in exon three in NURR1 (NR4A2) in two patients with schizophrenia (SZ) and one patient with bipolar disease with psychotic symptoms. In the present study we analyzed the promoter region of NURR1 and identified five polymorphic sites: three were found to be in strong linkage disequilibrium with a previously identified polymorphic site in the sixth intron. One polymorphism of this haplotype and the two other independent polymorphisms were investigated for their possible association with SZ and Parkinson's disease (PD) by comparing their frequencies in a Swedish material consisting of 134 subjects with SZ and 207 matched controls and 108 subjects with PD and 125 matched controls. Exon 1 was also investigated in our Parkinson and control material but no variances were found. The distributions of the two most informative polymorphisms in the promoter were investigated in an American material as well consisting of 141 subjects with SZ and 139 matched controls. Furthermore, the identified markers were screened for association with putative endophenotypes of SZ in the Swedish material. The distribution of sequence variants among the Swedish controls matched for SZ was investigated with regard to personality. No significant genotype or allelic association of the three sequence variants with SZ or PD was found. Several comparisons regarding endophenotypes or personality indicated association at the 5% confidence level, although correction for multiple testing rendered none of these findings significant. We conclude that the identified polymorphic sites in the human NURR1 are unlikely to be involved in conferring susceptibility for SZ or PD in our patient material. © 2003 Wiley‐Liss, Inc.</p></abstract><textClass xml:lang="en"><keywords scheme="keyword"><list><head>Keywords</head><item><term>genetics</term></item><item><term>association</term></item><item><term>dopamine</term></item><item><term>cerebrospinal fluid</term></item><item><term>positron emission tomography</term></item></list></keywords></textClass><textClass><keywords scheme="Journal Subject"><list><head>article category</head><item><term>Research Article</term></item></list></keywords></textClass></profileDesc><revisionDesc><change when="2002-08-29">Received</change><change when="2003-01-27">Registration</change><change when="2003-07-01">Published</change></revisionDesc></teiHeader></istex:fulltextTEI><json:item><original>false</original><mimetype>text/plain</mimetype><extension>txt</extension><uri>https://api.istex.fr/document/E6368E71360094BADB83079F33818D038771C384/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></publicationMeta><publicationMeta level="part" position="10"><doi origin="wiley" registered="yes">10.1002/ajmg.b.v120b:1</doi><idGroup><id type="focusSection" value="0"></id></idGroup><titleGroup><title type="focusSection" xml:lang="en">American Journal of Medical Genetics Part B: Neuropsychiatric Genetics</title></titleGroup><numberingGroup><numbering type="journalVolume" number="120">120B</numbering><numbering type="journalIssue">1</numbering></numberingGroup><coverDate startDate="2003-07-01">1 July 2003</coverDate></publicationMeta><publicationMeta level="unit" type="article" position="10" status="forIssue"><doi origin="wiley" registered="yes">10.1002/ajmg.b.20033</doi><idGroup><id type="unit" value="AJMG20033"></id></idGroup><countGroup><count type="pageTotal" number="7"></count></countGroup><titleGroup><title type="articleCategory">Research Article</title><title type="tocHeading1">Research Articles</title></titleGroup><copyright ownership="publisher">Copyright © 2003 Wiley‐Liss, Inc.</copyright><eventGroup><event type="manuscriptReceived" date="2002-08-29"></event><event type="manuscriptAccepted" date="2003-01-27"></event><event type="firstOnline" date="2003-04-01"></event><event type="publishedOnlineFinalForm" date="2003-06-11"></event><event type="publishedOnlineAcceptedOrEarlyUnpaginated" date="2003-04-01"></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">51</numbering><numbering type="pageLast">57</numbering></numberingGroup><correspondenceTo>Department of Neuroscience, Karolinska Institutet, 17177 Stockholm, Sweden.</correspondenceTo><linkGroup><link type="toTypesetVersion" href="file:AJMG.AJMG20033.pdf"></link></linkGroup></publicationMeta><contentMeta><countGroup><count type="figureTotal" number="1"></count><count type="tableTotal" number="6"></count><count type="referenceTotal" number="30"></count><count type="wordTotal" number="4984"></count></countGroup><titleGroup><title type="main" xml:lang="en"><i>NURR1</i> promoter polymorphisms: Parkinson's disease, schizophrenia, and personality traits</title><title type="short" xml:lang="en"><fi>NURR1</fi> Promoter Polymorphisms</title></titleGroup><creators><creator xml:id="au1" creatorRole="author" affiliationRef="#af1 #af2"><personName><givenNames>Andrea</givenNames><familyName>Carmine</familyName></personName></creator><creator xml:id="au2" creatorRole="author" affiliationRef="#af1 #af2"><personName><givenNames>Silvia</givenNames><familyName>Buervenich</familyName></personName></creator><creator xml:id="au3" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Dagmar</givenNames><familyName>Galter</familyName></personName></creator><creator xml:id="au4" creatorRole="author" affiliationRef="#af3"><personName><givenNames>Erik G.</givenNames><familyName>Jönsson</familyName></personName></creator><creator xml:id="au5" creatorRole="author" affiliationRef="#af3"><personName><givenNames>Göran C.</givenNames><familyName>Sedvall</familyName></personName></creator><creator xml:id="au6" creatorRole="author" affiliationRef="#af3"><personName><givenNames>Lars</givenNames><familyName>Farde</familyName></personName></creator><creator xml:id="au7" creatorRole="author" affiliationRef="#af4"><personName><givenNames>J. Petter</givenNames><familyName>Gustavsson</familyName></personName></creator><creator xml:id="au8" creatorRole="author" affiliationRef="#af5"><personName><givenNames>Hans</givenNames><familyName>Bergman</familyName></personName></creator><creator xml:id="au9" creatorRole="author" affiliationRef="#af6"><personName><givenNames>Kodavali V.</givenNames><familyName>Chowdari</familyName></personName></creator><creator xml:id="au10" creatorRole="author" affiliationRef="#af6 #af7"><personName><givenNames>Vishwajit L.</givenNames><familyName>Nimgaonkar</familyName></personName></creator><creator xml:id="au11" creatorRole="author" affiliationRef="#af8" currentRef="#curr1"><personName><givenNames>Maria</givenNames><familyName>Anvret</familyName></personName></creator><creator xml:id="au12" creatorRole="author" affiliationRef="#af8"><personName><givenNames>Olof</givenNames><familyName>Sydow</familyName></personName></creator><creator xml:id="au13" creatorRole="author" affiliationRef="#af1" corresponding="yes"><personName><givenNames>Lars</givenNames><familyName>Olson</familyName></personName><contactDetails><email>Lars.Olson@neuro.ki.se</email></contactDetails></creator></creators><affiliationGroup><affiliation xml:id="af1" countryCode="SE" type="organization"><unparsedAffiliation>Department of Neuroscience, Karolinska Institutet, Stockholm, Sweden</unparsedAffiliation></affiliation><affiliation xml:id="af2" countryCode="SE" type="organization"><unparsedAffiliation>Department of Molecular Medicine, Karolinska Institutet, Stockholm, Sweden</unparsedAffiliation></affiliation><affiliation xml:id="af3" countryCode="SE" type="organization"><unparsedAffiliation>HUBIN project, Department of Clinical Neuroscience, Psychiatry Section, Karolinska Institutet, Stockholm, Sweden</unparsedAffiliation></affiliation><affiliation xml:id="af4" countryCode="SE" type="organization"><unparsedAffiliation>Department of Nursing, Karolinska Institutet, Stockholm, Sweden</unparsedAffiliation></affiliation><affiliation xml:id="af5" countryCode="SE" type="organization"><unparsedAffiliation>Department of Clinical Neuroscience, Clinical Alcohol and Drug Addiction Research Section, Karolinska Institutet, Stockholm, Sweden</unparsedAffiliation></affiliation><affiliation xml:id="af6" countryCode="US" type="organization"><unparsedAffiliation>Department of Psychiatry, University of Pittsburgh, Pittsburgh, Pennsylvania</unparsedAffiliation></affiliation><affiliation xml:id="af7" countryCode="US" type="organization"><unparsedAffiliation>Department of Human Genetics, University of Pittsburgh, Pittsburgh, Pennsylvania</unparsedAffiliation></affiliation><affiliation xml:id="af8" countryCode="SE" type="organization"><unparsedAffiliation>Department of Clinical Neuroscience, Neurology Section, Karolinska Institutet, Stockholm, Sweden</unparsedAffiliation></affiliation><affiliation xml:id="curr1" countryCode="SE"><unparsedAffiliation>AstraZeneca R&D, Södertälje, Sweden.</unparsedAffiliation></affiliation></affiliationGroup><keywordGroup xml:lang="en" type="author"><keyword xml:id="kwd1">genetics</keyword><keyword xml:id="kwd2">association</keyword><keyword xml:id="kwd3">dopamine</keyword><keyword xml:id="kwd4">cerebrospinal fluid</keyword><keyword xml:id="kwd5">positron emission tomography</keyword></keywordGroup><fundingInfo><fundingAgency>Swedish Research Council, Karolinska Institutet, AstraZeneca, HUBIN project, Wallenberg Foundation, The Swedish Parkinson Foundation</fundingAgency></fundingInfo><abstractGroup><abstract type="main" xml:lang="en"><title type="main">Abstract</title><p>We have previously identified mutations in exon three in <i>NURR1</i> (<i>NR4A2</i>) in two patients with schizophrenia (SZ) and one patient with bipolar disease with psychotic symptoms. In the present study we analyzed the promoter region of <i>NURR1</i> and identified five polymorphic sites: three were found to be in strong linkage disequilibrium with a previously identified polymorphic site in the sixth intron. One polymorphism of this haplotype and the two other independent polymorphisms were investigated for their possible association with SZ and Parkinson's disease (PD) by comparing their frequencies in a Swedish material consisting of 134 subjects with SZ and 207 matched controls and 108 subjects with PD and 125 matched controls. Exon 1 was also investigated in our Parkinson and control material but no variances were found. The distributions of the two most informative polymorphisms in the promoter were investigated in an American material as well consisting of 141 subjects with SZ and 139 matched controls. Furthermore, the identified markers were screened for association with putative endophenotypes of SZ in the Swedish material. The distribution of sequence variants among the Swedish controls matched for SZ was investigated with regard to personality. No significant genotype or allelic association of the three sequence variants with SZ or PD was found. Several comparisons regarding endophenotypes or personality indicated association at the 5% confidence level, although correction for multiple testing rendered none of these findings significant. We conclude that the identified polymorphic sites in the human <i>NURR1</i> are unlikely to be involved in conferring susceptibility for SZ or PD in our patient material. © 2003 Wiley‐Liss, Inc.</p></abstract></abstractGroup></contentMeta></header></component></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>NURR1 promoter polymorphisms: Parkinson's disease, schizophrenia, and personality traits</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>NURR1 Promoter Polymorphisms</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>promoter polymorphisms: Parkinson's disease, schizophrenia, and personality traits</title></titleInfo><name type="personal"><namePart type="given">Andrea</namePart><namePart type="family">Carmine</namePart><affiliation>Department of Neuroscience, Karolinska Institutet, Stockholm, Sweden</affiliation><affiliation>Department of Molecular Medicine, Karolinska Institutet, Stockholm, Sweden</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Silvia</namePart><namePart type="family">Buervenich</namePart><affiliation>Department of Neuroscience, Karolinska Institutet, Stockholm, Sweden</affiliation><affiliation>Department of Molecular Medicine, Karolinska Institutet, Stockholm, Sweden</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Dagmar</namePart><namePart type="family">Galter</namePart><affiliation>Department of Neuroscience, Karolinska Institutet, Stockholm, Sweden</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Erik G.</namePart><namePart type="family">Jönsson</namePart><affiliation>HUBIN project, Department of Clinical Neuroscience, Psychiatry Section, Karolinska Institutet, Stockholm, Sweden</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Göran C.</namePart><namePart type="family">Sedvall</namePart><affiliation>HUBIN project, Department of Clinical Neuroscience, Psychiatry Section, Karolinska Institutet, Stockholm, Sweden</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Lars</namePart><namePart type="family">Farde</namePart><affiliation>HUBIN project, Department of Clinical Neuroscience, Psychiatry Section, Karolinska Institutet, Stockholm, Sweden</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">J. Petter</namePart><namePart type="family">Gustavsson</namePart><affiliation>Department of Nursing, Karolinska Institutet, Stockholm, Sweden</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Hans</namePart><namePart type="family">Bergman</namePart><affiliation>Department of Clinical Neuroscience, Clinical Alcohol and Drug Addiction Research Section, Karolinska Institutet, Stockholm, Sweden</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Kodavali V.</namePart><namePart type="family">Chowdari</namePart><affiliation>Department of Psychiatry, University of Pittsburgh, Pittsburgh, Pennsylvania</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Vishwajit L.</namePart><namePart type="family">Nimgaonkar</namePart><affiliation>Department of Psychiatry, University of Pittsburgh, Pittsburgh, Pennsylvania</affiliation><affiliation>Department of Human Genetics, University of Pittsburgh, Pittsburgh, Pennsylvania</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Maria</namePart><namePart type="family">Anvret</namePart><affiliation>Department of Clinical Neuroscience, Neurology Section, Karolinska Institutet, Stockholm, Sweden</affiliation><affiliation>Current Address: AstraZeneca R&D, Södertälje, Sweden.</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Olof</namePart><namePart type="family">Sydow</namePart><affiliation>Department of Clinical Neuroscience, Neurology Section, Karolinska Institutet, Stockholm, Sweden</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Lars</namePart><namePart type="family">Olson</namePart><affiliation>Department of Neuroscience, Karolinska Institutet, Stockholm, Sweden</affiliation><description>Correspondence: Department of Neuroscience, Karolinska Institutet, 17177 Stockholm, Sweden.</description><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre type="article" displayLabel="article"></genre><originInfo><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><place><placeTerm type="text">Hoboken</placeTerm></place><dateIssued encoding="w3cdtf">2003-07-01</dateIssued><dateCaptured encoding="w3cdtf">2002-08-29</dateCaptured><dateValid encoding="w3cdtf">2003-01-27</dateValid><copyrightDate encoding="w3cdtf">2003</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="figures">1</extent><extent unit="tables">6</extent><extent unit="references">30</extent><extent unit="words">4984</extent></physicalDescription><abstract lang="en">We have previously identified mutations in exon three in NURR1 (NR4A2) in two patients with schizophrenia (SZ) and one patient with bipolar disease with psychotic symptoms. In the present study we analyzed the promoter region of NURR1 and identified five polymorphic sites: three were found to be in strong linkage disequilibrium with a previously identified polymorphic site in the sixth intron. One polymorphism of this haplotype and the two other independent polymorphisms were investigated for their possible association with SZ and Parkinson's disease (PD) by comparing their frequencies in a Swedish material consisting of 134 subjects with SZ and 207 matched controls and 108 subjects with PD and 125 matched controls. Exon 1 was also investigated in our Parkinson and control material but no variances were found. The distributions of the two most informative polymorphisms in the promoter were investigated in an American material as well consisting of 141 subjects with SZ and 139 matched controls. Furthermore, the identified markers were screened for association with putative endophenotypes of SZ in the Swedish material. The distribution of sequence variants among the Swedish controls matched for SZ was investigated with regard to personality. No significant genotype or allelic association of the three sequence variants with SZ or PD was found. Several comparisons regarding endophenotypes or personality indicated association at the 5% confidence level, although correction for multiple testing rendered none of these findings significant. We conclude that the identified polymorphic sites in the human NURR1 are unlikely to be involved in conferring susceptibility for SZ or PD in our patient material. © 2003 Wiley‐Liss, Inc.</abstract><note type="funding">Swedish Research Council, Karolinska Institutet, AstraZeneca, HUBIN project, Wallenberg Foundation, The Swedish Parkinson Foundation</note><subject lang="en"><genre>Keywords</genre><topic>genetics</topic><topic>association</topic><topic>dopamine</topic><topic>cerebrospinal fluid</topic><topic>positron emission tomography</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>Research Article</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>2003</date><detail type="volume"><caption>vol.</caption><number>120B</number></detail><detail type="issue"><caption>no.</caption><number>1</number></detail><extent unit="pages"><start>51</start><end>57</end><total>7</total></extent></part></relatedItem><identifier type="istex">E6368E71360094BADB83079F33818D038771C384</identifier><identifier type="DOI">10.1002/ajmg.b.20033</identifier><identifier type="ArticleID">AJMG20033</identifier><accessCondition type="use and reproduction" contentType="copyright">Copyright © 2003 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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