Is TOR1A a risk factor in adult-onset primary torsion dystonia?
Identifieur interne : 000964 ( PubMed/Checkpoint ); précédent : 000963; suivant : 000965Is TOR1A a risk factor in adult-onset primary torsion dystonia?
Auteurs : Justus L. Groen [Pays-Bas] ; Katja Ritz ; Michael W. Tanck ; Bart P. Van De Warrenburg ; Jacobus J. Van Hilten ; Majid Aramideh ; Frank Baas ; Marina A J. TijssenSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2013.
English descriptors
- KwdEn :
- MESH :
- chemical , genetics : Molecular Chaperones.
- genetics : Dystonia Musculorum Deformans, Polymorphism, Single Nucleotide.
- Adult, Aged, Cohort Studies, Female, Gene Frequency, Genetic Association Studies, Genetic Predisposition to Disease, Haplotypes, Humans, Male, Middle Aged.
Abstract
Studies of genetic association between TOR1A and adult-onset primary torsion dystonia have contradictory results.
DOI: 10.1002/mds.25381
PubMed: 23460578
Affiliations:
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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Is TOR1A a risk factor in adult-onset primary torsion dystonia?</title><author><name sortKey="Groen, Justus L" sort="Groen, Justus L" uniqKey="Groen J" first="Justus L" last="Groen">Justus L. Groen</name><affiliation wicri:level="3"><nlm:affiliation>Department of Neurology, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>Department of Neurology, Academic Medical Center, University of Amsterdam, Amsterdam</wicri:regionArea><placeName><settlement type="city">Amsterdam</settlement><region nuts="2" type="province">Hollande-Septentrionale</region></placeName></affiliation></author><author><name sortKey="Ritz, Katja" sort="Ritz, Katja" uniqKey="Ritz K" first="Katja" last="Ritz">Katja Ritz</name></author><author><name sortKey="Tanck, Michael W" sort="Tanck, Michael W" uniqKey="Tanck M" first="Michael W" last="Tanck">Michael W. Tanck</name></author><author><name sortKey="Van De Warrenburg, Bart P" sort="Van De Warrenburg, Bart P" uniqKey="Van De Warrenburg B" first="Bart P" last="Van De Warrenburg">Bart P. Van De Warrenburg</name></author><author><name sortKey="Van Hilten, Jacobus J" sort="Van Hilten, Jacobus J" uniqKey="Van Hilten J" first="Jacobus J" last="Van Hilten">Jacobus J. Van Hilten</name></author><author><name sortKey="Aramideh, Majid" sort="Aramideh, Majid" uniqKey="Aramideh M" first="Majid" last="Aramideh">Majid Aramideh</name></author><author><name sortKey="Baas, Frank" sort="Baas, Frank" uniqKey="Baas F" first="Frank" last="Baas">Frank Baas</name></author><author><name sortKey="Tijssen, Marina A J" sort="Tijssen, Marina A J" uniqKey="Tijssen M" first="Marina A J" last="Tijssen">Marina A J. Tijssen</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2013">2013</date><idno type="doi">10.1002/mds.25381</idno><idno type="RBID">pubmed:23460578</idno><idno type="pmid">23460578</idno><idno type="wicri:Area/PubMed/Corpus">000A03</idno><idno type="wicri:Area/PubMed/Curation">000A03</idno><idno type="wicri:Area/PubMed/Checkpoint">000964</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Is TOR1A a risk factor in adult-onset primary torsion dystonia?</title><author><name sortKey="Groen, Justus L" sort="Groen, Justus L" uniqKey="Groen J" first="Justus L" last="Groen">Justus L. Groen</name><affiliation wicri:level="3"><nlm:affiliation>Department of Neurology, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>Department of Neurology, Academic Medical Center, University of Amsterdam, Amsterdam</wicri:regionArea><placeName><settlement type="city">Amsterdam</settlement><region nuts="2" type="province">Hollande-Septentrionale</region></placeName></affiliation></author><author><name sortKey="Ritz, Katja" sort="Ritz, Katja" uniqKey="Ritz K" first="Katja" last="Ritz">Katja Ritz</name></author><author><name sortKey="Tanck, Michael W" sort="Tanck, Michael W" uniqKey="Tanck M" first="Michael W" last="Tanck">Michael W. Tanck</name></author><author><name sortKey="Van De Warrenburg, Bart P" sort="Van De Warrenburg, Bart P" uniqKey="Van De Warrenburg B" first="Bart P" last="Van De Warrenburg">Bart P. Van De Warrenburg</name></author><author><name sortKey="Van Hilten, Jacobus J" sort="Van Hilten, Jacobus J" uniqKey="Van Hilten J" first="Jacobus J" last="Van Hilten">Jacobus J. Van Hilten</name></author><author><name sortKey="Aramideh, Majid" sort="Aramideh, Majid" uniqKey="Aramideh M" first="Majid" last="Aramideh">Majid Aramideh</name></author><author><name sortKey="Baas, Frank" sort="Baas, Frank" uniqKey="Baas F" first="Frank" last="Baas">Frank Baas</name></author><author><name sortKey="Tijssen, Marina A J" sort="Tijssen, Marina A J" uniqKey="Tijssen M" first="Marina A J" last="Tijssen">Marina A J. Tijssen</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="eISSN">1531-8257</idno><imprint><date when="2013" type="published">2013</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Aged</term><term>Cohort Studies</term><term>Dystonia Musculorum Deformans (genetics)</term><term>Female</term><term>Gene Frequency</term><term>Genetic Association Studies</term><term>Genetic Predisposition to Disease</term><term>Haplotypes</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Molecular Chaperones (genetics)</term><term>Polymorphism, Single Nucleotide (genetics)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Molecular Chaperones</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Dystonia Musculorum Deformans</term><term>Polymorphism, Single Nucleotide</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Aged</term><term>Cohort Studies</term><term>Female</term><term>Gene Frequency</term><term>Genetic Association Studies</term><term>Genetic Predisposition to Disease</term><term>Haplotypes</term><term>Humans</term><term>Male</term><term>Middle Aged</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Studies of genetic association between TOR1A and adult-onset primary torsion dystonia have contradictory results.</div></front></TEI><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">23460578</PMID><DateCreated><Year>2013</Year><Month>06</Month><Day>26</Day></DateCreated><DateCompleted><Year>2014</Year><Month>01</Month><Day>30</Day></DateCompleted><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1531-8257</ISSN><JournalIssue CitedMedium="Internet"><Volume>28</Volume><Issue>6</Issue><PubDate><Year>2013</Year><Month>Jun</Month></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. Disord.</ISOAbbreviation></Journal><ArticleTitle>Is TOR1A a risk factor in adult-onset primary torsion dystonia?</ArticleTitle><Pagination><MedlinePgn>827-31</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1002/mds.25381</ELocationID><Abstract><AbstractText Label="BACKGROUND" NlmCategory="BACKGROUND">Studies of genetic association between TOR1A and adult-onset primary torsion dystonia have contradictory results.</AbstractText><AbstractText Label="METHODS" NlmCategory="METHODS">The authors genotyped TOR1A single nucleotide polymorphisms rs1801968, rs2296793, rs1182 and rs3842225 in a cohort of clinically well characterized cervical dystonia patients (n=367) and constructed haplotypes. The authors systematically reviewed the published case-control TOR1A association studies in adult-onset primary torsion dystonia.</AbstractText><AbstractText Label="RESULTS" NlmCategory="RESULTS">In this Dutch cervical dystonia cohort, no significant association was found with TOR1A variants. In the meta-analysis (eight studies, 1332 adult-onset primary dystonia patients) no variant reached overall significance. However, in a selection of familial cases the functional variant p.Asp216His (rs1801968) was associated with increased dystonia risk (odds ratio 1.43; 95%CI 1.01-2.02).</AbstractText><AbstractText Label="CONCLUSIONS" NlmCategory="CONCLUSIONS">Meta-analysis does not show association with common variants in TOR1A in adult-onset primary dystonia, except for the functional variant rs1801968 in familial focal dystonia cases.</AbstractText><CopyrightInformation>Copyright © 2013 Movement Disorder Society.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Groen</LastName><ForeName>Justus L</ForeName><Initials>JL</Initials><AffiliationInfo><Affiliation>Department of Neurology, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Ritz</LastName><ForeName>Katja</ForeName><Initials>K</Initials></Author><Author ValidYN="Y"><LastName>Tanck</LastName><ForeName>Michael W</ForeName><Initials>MW</Initials></Author><Author ValidYN="Y"><LastName>van de Warrenburg</LastName><ForeName>Bart P</ForeName><Initials>BP</Initials></Author><Author ValidYN="Y"><LastName>van Hilten</LastName><ForeName>Jacobus J</ForeName><Initials>JJ</Initials></Author><Author ValidYN="Y"><LastName>Aramideh</LastName><ForeName>Majid</ForeName><Initials>M</Initials></Author><Author ValidYN="Y"><LastName>Baas</LastName><ForeName>Frank</ForeName><Initials>F</Initials></Author><Author ValidYN="Y"><LastName>Tijssen</LastName><ForeName>Marina A J</ForeName><Initials>MA</Initials></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D017418">Meta-Analysis</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2013</Year><Month>03</Month><Day>04</Day></ArticleDate></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Mov Disord</MedlineTA><NlmUniqueID>8610688</NlmUniqueID><ISSNLinking>0885-3185</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D018832">Molecular Chaperones</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="C108175">TOR1A protein, human</NameOfSubstance></Chemical></ChemicalList><SupplMeshList><SupplMeshName Type="Disease" UI="C538005">Dystonia musculorum deformans type 1</SupplMeshName></SupplMeshList><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000328">Adult</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000368">Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D015331">Cohort Studies</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D004422">Dystonia Musculorum Deformans</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005260">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005787">Gene Frequency</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D056726">Genetic Association Studies</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="Y" UI="D020022">Genetic Predisposition to Disease</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D006239">Haplotypes</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008297">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008875">Middle Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D018832">Molecular Chaperones</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D020641">Polymorphism, Single Nucleotide</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="received"><Year>2012</Year><Month>8</Month><Day>3</Day></PubMedPubDate><PubMedPubDate PubStatus="revised"><Year>2012</Year><Month>12</Month><Day>10</Day></PubMedPubDate><PubMedPubDate PubStatus="accepted"><Year>2013</Year><Month>1</Month><Day>3</Day></PubMedPubDate><PubMedPubDate PubStatus="aheadofprint"><Year>2013</Year><Month>3</Month><Day>4</Day></PubMedPubDate><PubMedPubDate 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sortKey="Ritz, Katja" sort="Ritz, Katja" uniqKey="Ritz K" first="Katja" last="Ritz">Katja Ritz</name><name sortKey="Tanck, Michael W" sort="Tanck, Michael W" uniqKey="Tanck M" first="Michael W" last="Tanck">Michael W. Tanck</name><name sortKey="Tijssen, Marina A J" sort="Tijssen, Marina A J" uniqKey="Tijssen M" first="Marina A J" last="Tijssen">Marina A J. Tijssen</name><name sortKey="Van De Warrenburg, Bart P" sort="Van De Warrenburg, Bart P" uniqKey="Van De Warrenburg B" first="Bart P" last="Van De Warrenburg">Bart P. Van De Warrenburg</name><name sortKey="Van Hilten, Jacobus J" sort="Van Hilten, Jacobus J" uniqKey="Van Hilten J" first="Jacobus J" last="Van Hilten">Jacobus J. Van Hilten</name></noCountry><country name="Pays-Bas"><region name="Hollande-Septentrionale"><name sortKey="Groen, Justus L" sort="Groen, Justus L" uniqKey="Groen J" first="Justus L" last="Groen">Justus L. Groen</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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