Genetic evidence for an association of the TOR1A locus with segmental/focal dystonia
Identifieur interne : 002103 ( Main/Merge ); précédent : 002102; suivant : 002104Genetic evidence for an association of the TOR1A locus with segmental/focal dystonia
Auteurs : Nutan Sharma [États-Unis] ; Ramon A. Franco Jr. [États-Unis] ; John K. Kuster [États-Unis] ; Adele A. Mitchell [États-Unis] ; Tania Fuchs [États-Unis] ; Rachel Saunders-Pullman [États-Unis] ; Deborah Raymond [États-Unis] ; Mitchell F. Brin [États-Unis] ; Andrew Blitzer [États-Unis] ; Susan B. Bressman [États-Unis] ; Laurie J. Ozelius [États-Unis]Source :
- Movement Disorders [ 0885-3185 ] ; 2010-10-15.
English descriptors
- KwdEn :
- Adult, Aged, Dystonic Disorders (classification), Dystonic Disorders (genetics), Female, Gene Frequency, Genetic Predisposition to Disease, Genome-Wide Association Study, Genotype, Humans, Male, Middle Aged, Molecular Chaperones (genetics), Polymorphism, Single Nucleotide (genetics), Young Adult, focal dystonia, segmental dystonia, single nucleotide polymorphisms, torsinA.
- 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. © 2010 Movement Disorder Society
Url:
- https://api.istex.fr/document/93F6B314DFCE6FDE969087B4597F4B67F2677FB9/fulltext/pdf
- http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3095887
DOI: 10.1002/mds.23225
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ISTEX:93F6B314DFCE6FDE969087B4597F4B67F2677FB9Le document en format XML
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<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. © 2010 Movement Disorder Society</div>
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<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. © 2010 Movement Disorder Society</div>
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<author><name sortKey="Raymond, Deborah" sort="Raymond, Deborah" uniqKey="Raymond D" first="Deborah" last="Raymond">Deborah Raymond</name>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">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>
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<author><name sortKey="Franco, Ramon A" sort="Franco, Ramon A" uniqKey="Franco R" first="Ramon A" last="Franco">Ramon A. Franco</name>
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<wicri:noCountry code="subfield">Massachusetts Eye and Ear Infirmary</wicri:noCountry>
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<author><name sortKey="Kuster, John" sort="Kuster, John" uniqKey="Kuster J" first="John" last="Kuster">John Kuster</name>
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<wicri:noCountry code="subfield">Massachusetts General Hospital</wicri:noCountry>
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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>
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<author><name sortKey="Fuchs, Tania" sort="Fuchs, Tania" uniqKey="Fuchs T" first="Tania" last="Fuchs">Tania Fuchs</name>
<affiliation><nlm:aff id="A4">Department of Genetics and Genomic Sciences</nlm:aff>
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<idno type="ISSN">0885-3185</idno>
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<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>
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<term>Aged</term>
<term>Female</term>
<term>Gene Frequency</term>
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<term>Genome-Wide Association Study</term>
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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>
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