The p.Asp216His TOR1A allele effect is not found in the French population.
Identifieur interne : 001D86 ( PubMed/Corpus ); précédent : 001D85; suivant : 001D87The p.Asp216His TOR1A allele effect is not found in the French population.
Auteurs : Mélissa Yana Frédéric ; Fabienne Clot ; Arnaud Blanchard ; Claire-Marie Dhaenens ; Gaëtan Lesca ; Laura Cif ; Alexandra Dürr ; Marie Vidailhet ; Bernard Sablonniere ; Alain Calender ; Maria Martinez ; Nicolas Molinari ; Alexis Brice ; Mireille Claustres ; Sylvie Tuffery-Giraud ; Gwenaëlle Collod-BeroudSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2009.
English descriptors
- KwdEn :
- MESH :
- chemical , genetics : Aspartic Acid, Histidine, Molecular Chaperones.
- geographic , epidemiology : France.
- geographic , ethnology : France.
- genetics : Dystonic Disorders, Polymorphism, Single Nucleotide.
- Alleles, DNA Mutational Analysis, Gene Frequency, Humans.
Abstract
DYT1 dystonia are one of the exceptions in human genetics with its unique and recurrent mutation (c.907delGAG). In this rare movement disorder, the mutation is associated with incomplete penetrance as well as great clinical variability, making this disease a benchmark to search for genetic modifiers. Recently, Risch et al. have demonstrated the implication of the rs1801968 SNP in disease penetrance. We attempted to replicate this result in an exhaustive DYT1 French population with no success. Our results argue that the rs1801968 H allele effect is not part of the modifiers in the French population of DYT1 patients and that others have to be identified in our population.
DOI: 10.1002/mds.22407
PubMed: 19260107
Links to Exploration step
pubmed:19260107Le document en format XML
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type="wicri:Area/PubMed/Corpus">001D86</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">The p.Asp216His TOR1A allele effect is not found in the French population.</title><author><name sortKey="Frederic, Melissa Yana" sort="Frederic, Melissa Yana" uniqKey="Frederic M" first="Mélissa Yana" last="Frédéric">Mélissa Yana Frédéric</name><affiliation><nlm:affiliation>INSERM U827, Institut Universitaire de Recherche Clinique, 641 av du doyen Gaston Giraud, Montpellier Cedex 05, France.</nlm:affiliation></affiliation></author><author><name sortKey="Clot, Fabienne" sort="Clot, Fabienne" uniqKey="Clot F" first="Fabienne" last="Clot">Fabienne Clot</name></author><author><name sortKey="Blanchard, Arnaud" sort="Blanchard, Arnaud" uniqKey="Blanchard A" first="Arnaud" last="Blanchard">Arnaud Blanchard</name></author><author><name sortKey="Dhaenens, Claire Marie" sort="Dhaenens, Claire Marie" uniqKey="Dhaenens C" first="Claire-Marie" last="Dhaenens">Claire-Marie Dhaenens</name></author><author><name sortKey="Lesca, Gaetan" sort="Lesca, Gaetan" uniqKey="Lesca G" first="Gaëtan" last="Lesca">Gaëtan Lesca</name></author><author><name sortKey="Cif, Laura" sort="Cif, Laura" uniqKey="Cif L" first="Laura" last="Cif">Laura Cif</name></author><author><name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Dürr">Alexandra Dürr</name></author><author><name sortKey="Vidailhet, Marie" sort="Vidailhet, Marie" uniqKey="Vidailhet M" first="Marie" last="Vidailhet">Marie Vidailhet</name></author><author><name sortKey="Sablonniere, Bernard" sort="Sablonniere, Bernard" uniqKey="Sablonniere B" first="Bernard" last="Sablonniere">Bernard Sablonniere</name></author><author><name sortKey="Calender, Alain" sort="Calender, Alain" uniqKey="Calender A" first="Alain" last="Calender">Alain Calender</name></author><author><name sortKey="Martinez, Maria" sort="Martinez, Maria" uniqKey="Martinez M" first="Maria" last="Martinez">Maria Martinez</name></author><author><name sortKey="Molinari, Nicolas" sort="Molinari, Nicolas" uniqKey="Molinari N" first="Nicolas" last="Molinari">Nicolas Molinari</name></author><author><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name></author><author><name sortKey="Claustres, Mireille" sort="Claustres, Mireille" uniqKey="Claustres M" first="Mireille" last="Claustres">Mireille Claustres</name></author><author><name sortKey="Tuffery Giraud, Sylvie" sort="Tuffery Giraud, Sylvie" uniqKey="Tuffery Giraud S" first="Sylvie" last="Tuffery-Giraud">Sylvie Tuffery-Giraud</name></author><author><name sortKey="Collod Beroud, Gwenaelle" sort="Collod Beroud, Gwenaelle" uniqKey="Collod Beroud G" first="Gwenaëlle" last="Collod-Beroud">Gwenaëlle Collod-Beroud</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="2009" type="published">2009</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Alleles</term><term>Aspartic Acid (genetics)</term><term>DNA Mutational Analysis</term><term>Dystonic Disorders (genetics)</term><term>France (epidemiology)</term><term>France (ethnology)</term><term>Gene Frequency</term><term>Histidine (genetics)</term><term>Humans</term><term>Molecular Chaperones (genetics)</term><term>Polymorphism, Single Nucleotide (genetics)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Aspartic Acid</term><term>Histidine</term><term>Molecular Chaperones</term></keywords><keywords scheme="MESH" type="geographic" qualifier="epidemiology" xml:lang="en"><term>France</term></keywords><keywords scheme="MESH" type="geographic" qualifier="ethnology" xml:lang="en"><term>France</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Dystonic Disorders</term><term>Polymorphism, Single Nucleotide</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Alleles</term><term>DNA Mutational Analysis</term><term>Gene Frequency</term><term>Humans</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">DYT1 dystonia are one of the exceptions in human genetics with its unique and recurrent mutation (c.907delGAG). In this rare movement disorder, the mutation is associated with incomplete penetrance as well as great clinical variability, making this disease a benchmark to search for genetic modifiers. Recently, Risch et al. have demonstrated the implication of the rs1801968 SNP in disease penetrance. We attempted to replicate this result in an exhaustive DYT1 French population with no success. Our results argue that the rs1801968 H allele effect is not part of the modifiers in the French population of DYT1 patients and that others have to be identified in our population.</div></front></TEI><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">19260107</PMID><DateCreated><Year>2009</Year><Month>05</Month><Day>04</Day></DateCreated><DateCompleted><Year>2009</Year><Month>07</Month><Day>29</Day></DateCompleted><DateRevised><Year>2013</Year><Month>11</Month><Day>21</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Electronic">1531-8257</ISSN><JournalIssue CitedMedium="Internet"><Volume>24</Volume><Issue>6</Issue><PubDate><Year>2009</Year><Month>Apr</Month><Day>30</Day></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. Disord.</ISOAbbreviation></Journal><ArticleTitle>The p.Asp216His TOR1A allele effect is not found in the French population.</ArticleTitle><Pagination><MedlinePgn>919-21</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1002/mds.22407</ELocationID><Abstract><AbstractText>DYT1 dystonia are one of the exceptions in human genetics with its unique and recurrent mutation (c.907delGAG). In this rare movement disorder, the mutation is associated with incomplete penetrance as well as great clinical variability, making this disease a benchmark to search for genetic modifiers. Recently, Risch et al. have demonstrated the implication of the rs1801968 SNP in disease penetrance. We attempted to replicate this result in an exhaustive DYT1 French population with no success. Our results argue that the rs1801968 H allele effect is not part of the modifiers in the French population of DYT1 patients and that others have to be identified in our population.</AbstractText><CopyrightInformation>(c) 2008 Movement Disorder Society.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Frédéric</LastName><ForeName>Mélissa Yana</ForeName><Initials>MY</Initials><AffiliationInfo><Affiliation>INSERM U827, Institut Universitaire de Recherche Clinique, 641 av du doyen Gaston Giraud, Montpellier Cedex 05, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Clot</LastName><ForeName>Fabienne</ForeName><Initials>F</Initials></Author><Author ValidYN="Y"><LastName>Blanchard</LastName><ForeName>Arnaud</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Dhaenens</LastName><ForeName>Claire-Marie</ForeName><Initials>CM</Initials></Author><Author ValidYN="Y"><LastName>Lesca</LastName><ForeName>Gaëtan</ForeName><Initials>G</Initials></Author><Author ValidYN="Y"><LastName>Cif</LastName><ForeName>Laura</ForeName><Initials>L</Initials></Author><Author ValidYN="Y"><LastName>Dürr</LastName><ForeName>Alexandra</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Vidailhet</LastName><ForeName>Marie</ForeName><Initials>M</Initials></Author><Author ValidYN="Y"><LastName>Sablonniere</LastName><ForeName>Bernard</ForeName><Initials>B</Initials></Author><Author ValidYN="Y"><LastName>Calender</LastName><ForeName>Alain</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Martinez</LastName><ForeName>Maria</ForeName><Initials>M</Initials></Author><Author ValidYN="Y"><LastName>Molinari</LastName><ForeName>Nicolas</ForeName><Initials>N</Initials></Author><Author ValidYN="Y"><LastName>Brice</LastName><ForeName>Alexis</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Claustres</LastName><ForeName>Mireille</ForeName><Initials>M</Initials></Author><Author ValidYN="Y"><LastName>Tuffery-Giraud</LastName><ForeName>Sylvie</ForeName><Initials>S</Initials></Author><Author ValidYN="Y"><LastName>Collod-Beroud</LastName><ForeName>Gwenaëlle</ForeName><Initials>G</Initials></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType></PublicationTypeList></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><Chemical><RegistryNumber>30KYC7MIAI</RegistryNumber><NameOfSubstance UI="D001224">Aspartic Acid</NameOfSubstance></Chemical><Chemical><RegistryNumber>4QD397987E</RegistryNumber><NameOfSubstance UI="D006639">Histidine</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000483">Alleles</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D001224">Aspartic Acid</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D004252">DNA Mutational Analysis</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D020821">Dystonic Disorders</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" Type="Geographic" UI="D005602">France</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000453">epidemiology</QualifierName><QualifierName MajorTopicYN="N" UI="Q000208">ethnology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005787">Gene Frequency</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D006639">Histidine</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</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="entrez"><Year>2009</Year><Month>3</Month><Day>5</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2009</Year><Month>3</Month><Day>5</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2009</Year><Month>7</Month><Day>30</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="doi">10.1002/mds.22407</ArticleId><ArticleId IdType="pubmed">19260107</ArticleId></ArticleIdList></PubmedData></pubmed></record>Pour manipuler ce document sous Unix (Dilib)
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