Genetic evidence for an association of the TOR1A locus with segmental/focal dystonia
Identifieur interne : 002D31 ( Ncbi/Merge ); précédent : 002D30; suivant : 002D32Genetic evidence for an association of the TOR1A locus with segmental/focal dystonia
Auteurs : Nutan Sharma ; Ramon A. Franco ; John Kuster ; Adele A. Mitchell ; Tania Fuchs ; Rachel Saunders-Pullman ; Deborah Raymond ; Mitchell F. Brin ; Andrew Blitzer [États-Unis] ; Susan B. Bressman ; Laurie J. OzeliusSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2010.
English descriptors
- KwdEn :
- MESH :
- chemical , genetics : Molecular Chaperones.
- classification : Dystonic Disorders.
- genetics : Dystonic Disorders, Polymorphism, Single Nucleotide.
- Adult, Aged, Female, Gene Frequency, Genetic Predisposition to Disease, Genome-Wide Association Study, Genotype, Humans, Male, Middle Aged, Young Adult.
Abstract
Polymorphisms in the TOR1A/TOR1B region have been implicated as being associated with primary focal and segmental dystonia. In a cohort of subjects with either focal or segmental dystonia affecting the face, larynx, neck or arm we report a strong association of a single nucleotide polymorphism (SNP), the deletion allele at the Mtdel SNP (rs3842225) and protection from focal dystonia. In contrast, we did not find an association of either allele at the D216H SNP (rs1801968) with focal or segmental dystonia in the same cohort.
Url:
DOI: 10.1002/mds.23225
PubMed: 20669276
PubMed Central: 3095887
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PMC:3095887Le document en format XML
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<front><div type="abstract" xml:lang="en"><p id="P1">Polymorphisms in the TOR1A/TOR1B region have been implicated as being associated with primary focal and segmental dystonia. In a cohort of subjects with either focal or segmental dystonia affecting the face, larynx, neck or arm we report a strong association of a single nucleotide polymorphism (SNP), the deletion allele at the Mtdel SNP (rs3842225) and protection from focal dystonia. In contrast, we did not find an association of either allele at the D216H SNP (rs1801968) with focal or segmental dystonia in the same cohort.</p>
</div>
</front>
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<front><div type="abstract" xml:lang="en"><p id="P1">Polymorphisms in the TOR1A/TOR1B region have been implicated as being associated with primary focal and segmental dystonia. In a cohort of subjects with either focal or segmental dystonia affecting the face, larynx, neck or arm we report a strong association of a single nucleotide polymorphism (SNP), the deletion allele at the Mtdel SNP (rs3842225) and protection from focal dystonia. In contrast, we did not find an association of either allele at the D216H SNP (rs1801968) with focal or segmental dystonia in the same cohort.</p>
</div>
</front>
</TEI>
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<author><name sortKey="Mitchell, Adele A" sort="Mitchell, Adele A" uniqKey="Mitchell A" first="Adele A" last="Mitchell">Adele A. Mitchell</name>
</author>
<author><name sortKey="Fuchs, Tania" sort="Fuchs, Tania" uniqKey="Fuchs T" first="Tania" last="Fuchs">Tania Fuchs</name>
</author>
<author><name sortKey="Saunders Pullman, Rachel" sort="Saunders Pullman, Rachel" uniqKey="Saunders Pullman R" first="Rachel" last="Saunders-Pullman">Rachel Saunders-Pullman</name>
</author>
<author><name sortKey="Raymond, Deborah" sort="Raymond, Deborah" uniqKey="Raymond D" first="Deborah" last="Raymond">Deborah Raymond</name>
</author>
<author><name sortKey="Brin, Mitchell F" sort="Brin, Mitchell F" uniqKey="Brin M" first="Mitchell F" last="Brin">Mitchell F. Brin</name>
</author>
<author><name sortKey="Blitzer, Andrew" sort="Blitzer, Andrew" uniqKey="Blitzer A" first="Andrew" last="Blitzer">Andrew Blitzer</name>
</author>
<author><name sortKey="Bressman, Susan B" sort="Bressman, Susan B" uniqKey="Bressman S" first="Susan B" last="Bressman">Susan B. Bressman</name>
</author>
<author><name sortKey="Ozelius, Laurie J" sort="Ozelius, Laurie J" uniqKey="Ozelius L" first="Laurie J" last="Ozelius">Laurie J. Ozelius</name>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">PubMed</idno>
<date when="2010">2010</date>
<idno type="doi">10.1002/mds.23225</idno>
<idno type="RBID">pubmed:20669276</idno>
<idno type="pmid">20669276</idno>
<idno type="wicri:Area/PubMed/Corpus">001686</idno>
<idno type="wicri:Area/PubMed/Curation">001686</idno>
<idno type="wicri:Area/PubMed/Checkpoint">001863</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en">Genetic evidence for an association of the TOR1A locus with segmental/focal dystonia.</title>
<author><name sortKey="Sharma, Nutan" sort="Sharma, Nutan" uniqKey="Sharma N" first="Nutan" last="Sharma">Nutan Sharma</name>
<affiliation wicri:level="2"><nlm:affiliation>Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA. nsharma@partners.org</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Franco, Ramon A" sort="Franco, Ramon A" uniqKey="Franco R" first="Ramon A" last="Franco">Ramon A. Franco</name>
</author>
<author><name sortKey="Kuster, John K" sort="Kuster, John K" uniqKey="Kuster J" first="John K" last="Kuster">John K. Kuster</name>
</author>
<author><name sortKey="Mitchell, Adele A" sort="Mitchell, Adele A" uniqKey="Mitchell A" first="Adele A" last="Mitchell">Adele A. Mitchell</name>
</author>
<author><name sortKey="Fuchs, Tania" sort="Fuchs, Tania" uniqKey="Fuchs T" first="Tania" last="Fuchs">Tania Fuchs</name>
</author>
<author><name sortKey="Saunders Pullman, Rachel" sort="Saunders Pullman, Rachel" uniqKey="Saunders Pullman R" first="Rachel" last="Saunders-Pullman">Rachel Saunders-Pullman</name>
</author>
<author><name sortKey="Raymond, Deborah" sort="Raymond, Deborah" uniqKey="Raymond D" first="Deborah" last="Raymond">Deborah Raymond</name>
</author>
<author><name sortKey="Brin, Mitchell F" sort="Brin, Mitchell F" uniqKey="Brin M" first="Mitchell F" last="Brin">Mitchell F. Brin</name>
</author>
<author><name sortKey="Blitzer, Andrew" sort="Blitzer, Andrew" uniqKey="Blitzer A" first="Andrew" last="Blitzer">Andrew Blitzer</name>
</author>
<author><name sortKey="Bressman, Susan B" sort="Bressman, Susan B" uniqKey="Bressman S" first="Susan B" last="Bressman">Susan B. Bressman</name>
</author>
<author><name sortKey="Ozelius, Laurie J" sort="Ozelius, Laurie J" uniqKey="Ozelius L" first="Laurie J" last="Ozelius">Laurie J. Ozelius</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="2010" type="published">2010</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term>
<term>Aged</term>
<term>Dystonic Disorders (classification)</term>
<term>Dystonic Disorders (genetics)</term>
<term>Female</term>
<term>Gene Frequency</term>
<term>Genetic Predisposition to Disease</term>
<term>Genome-Wide Association Study</term>
<term>Genotype</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Molecular Chaperones (genetics)</term>
<term>Polymorphism, Single Nucleotide (genetics)</term>
<term>Young Adult</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Molecular Chaperones</term>
</keywords>
<keywords scheme="MESH" qualifier="classification" xml:lang="en"><term>Dystonic Disorders</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>Adult</term>
<term>Aged</term>
<term>Female</term>
<term>Gene Frequency</term>
<term>Genetic Predisposition to Disease</term>
<term>Genome-Wide Association Study</term>
<term>Genotype</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Young Adult</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">Polymorphisms in the TOR1A/TOR1B region have been implicated as being associated with primary focal and segmental dystonia. In a cohort of subjects with either focal or segmental dystonia affecting the face, larynx, neck, or arm, we report a strong association of a single nucleotide polymorphism (SNP), the deletion allele at the Mtdel SNP (rs3842225), and protection from focal dystonia. In contrast, we did not find an association of either allele at the D216H SNP (rs1801968) with focal or segmental dystonia in the same cohort.</div>
</front>
</TEI>
</pubmed>
</double>
</record>
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