Genetic evidence for an association of the TOR1A locus with segmental/focal dystonia
Identifieur interne : 001C67 ( Main/Curation ); précédent : 001C66; suivant : 001C68Genetic 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.
Descripteurs français
- Pascal (Inist)
English descriptors
- KwdEn :
- Adult, Aged, Dystonia, Dystonic Disorders (classification), Dystonic Disorders (genetics), Female, Gene Frequency, Genetic Predisposition to Disease, Genome-Wide Association Study, Genotype, Humans, Locus, Male, Middle Aged, Molecular Chaperones (genetics), Nervous system diseases, Polymorphism, Single Nucleotide (genetics), Single nucleotide polymorphism, 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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<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>Locus</term>
<term>Male</term>
<term>Middle Aged</term>
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<term>Nervous system diseases</term>
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<term>Single nucleotide polymorphism</term>
<term>Young Adult</term>
<term>focal dystonia</term>
<term>segmental dystonia</term>
<term>single nucleotide polymorphisms</term>
<term>torsinA</term>
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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>
</front>
</TEI>
<double idat="0885-3185:2010:Sharma N:genetic:evidence:for"><INIST><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en" level="a">Genetic Evidence for an Association of the TOR1A Locus with Segmental/Focal Dystonia</title>
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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.</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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