Assessing the role of DRD5 and DYT1 in two different case–control series with primary blepharospasm
Identifieur interne : 003014 ( Main/Exploration ); précédent : 003013; suivant : 003015Assessing the role of DRD5 and DYT1 in two different case–control series with primary blepharospasm
Auteurs : Jordi Clarimon [États-Unis] ; Francesco Brancati [Italie] ; Elizabeth Peckham [États-Unis] ; Enza Maria Valente [Italie] ; Bruno Dallapiccola [Italie] ; Giovanni Abruzzese [Italie] ; Paolo Girlanda [Italie] ; Giovanni Defazio [Italie] ; Alfredo Berardelli [Italie] ; Mark Hallett [États-Unis] ; Andrew B. Singleton [États-Unis]Source :
- Movement Disorders [ 0885-3185 ] ; 2007-01-15.
Descripteurs français
- Pascal (Inist)
English descriptors
- KwdEn :
- Blepharospasm, Blepharospasm (diagnosis), Blepharospasm (genetics), Blepharospasm (physiopathology), Case-Control Studies, DNA Primers (genetics), DRD5, DYT1, Female, Gene Frequency, Genotype, Humans, Linkage Disequilibrium (genetics), Male, Microsatellite Repeats (genetics), Middle Aged, Molecular Chaperones (genetics), Molecular Chaperones (physiology), Nervous system diseases, Polymerase Chain Reaction, Polymorphism, Genetic (genetics), Receptors, Dopamine D5 (genetics), Receptors, Dopamine D5 (physiology), Severity of Illness Index, association, blepharospasm, case–control, genetics.
- MESH :
- chemical , genetics : DNA Primers, Molecular Chaperones, Receptors, Dopamine D5.
- diagnosis : Blepharospasm.
- genetics : Blepharospasm, Linkage Disequilibrium, Microsatellite Repeats, Polymorphism, Genetic.
- chemical , physiology : Molecular Chaperones, Receptors, Dopamine D5.
- physiopathology : Blepharospasm.
- Case-Control Studies, Female, Gene Frequency, Genotype, Humans, Male, Middle Aged, Polymerase Chain Reaction, Severity of Illness Index.
Abstract
Primary blepharospasm is a common adult‐onset focal dystonia. Polymorphisms of the genes encoding TorsinA (DYT1) and the D5 dopamine receptor (DRD5) have previously been associated with lifetime risk for focal dystonia. We describe here experiments testing common variability within these two genes in two independent cohorts of Italian and North American patients with primary blepharospasm. We have failed to identify a consistent association with disease in the two patient groups examined here; however, analysis of the Italian group reveals an association with the same risk genotype in DYT1 as previously described in an Icelandic population. We have also found global significant DYT1 haplotype differences between patients and controls in the Italian series. These data suggest that further examination is warranted of the role genetic variability at this locus plays in the risk for primary dystonia. © 2006 Movement Disorder Society
Url:
DOI: 10.1002/mds.21182
Affiliations:
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Blepharospasm</term>
<term>Blepharospasm (diagnosis)</term>
<term>Blepharospasm (genetics)</term>
<term>Blepharospasm (physiopathology)</term>
<term>Case-Control Studies</term>
<term>DNA Primers (genetics)</term>
<term>DRD5</term>
<term>DYT1</term>
<term>Female</term>
<term>Gene Frequency</term>
<term>Genotype</term>
<term>Humans</term>
<term>Linkage Disequilibrium (genetics)</term>
<term>Male</term>
<term>Microsatellite Repeats (genetics)</term>
<term>Middle Aged</term>
<term>Molecular Chaperones (genetics)</term>
<term>Molecular Chaperones (physiology)</term>
<term>Nervous system diseases</term>
<term>Polymerase Chain Reaction</term>
<term>Polymorphism, Genetic (genetics)</term>
<term>Receptors, Dopamine D5 (genetics)</term>
<term>Receptors, Dopamine D5 (physiology)</term>
<term>Severity of Illness Index</term>
<term>association</term>
<term>blepharospasm</term>
<term>case–control</term>
<term>genetics</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>DNA Primers</term>
<term>Molecular Chaperones</term>
<term>Receptors, Dopamine D5</term>
</keywords>
<keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Blepharospasm</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Blepharospasm</term>
<term>Linkage Disequilibrium</term>
<term>Microsatellite Repeats</term>
<term>Polymorphism, Genetic</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="physiology" xml:lang="en"><term>Molecular Chaperones</term>
<term>Receptors, Dopamine D5</term>
</keywords>
<keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Blepharospasm</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Case-Control Studies</term>
<term>Female</term>
<term>Gene Frequency</term>
<term>Genotype</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Polymerase Chain Reaction</term>
<term>Severity of Illness Index</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Blépharospasme</term>
<term>Système nerveux pathologie</term>
</keywords>
</textClass>
<langUsage><language ident="en">en</language>
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<front><div type="abstract" xml:lang="en">Primary blepharospasm is a common adult‐onset focal dystonia. Polymorphisms of the genes encoding TorsinA (DYT1) and the D5 dopamine receptor (DRD5) have previously been associated with lifetime risk for focal dystonia. We describe here experiments testing common variability within these two genes in two independent cohorts of Italian and North American patients with primary blepharospasm. We have failed to identify a consistent association with disease in the two patient groups examined here; however, analysis of the Italian group reveals an association with the same risk genotype in DYT1 as previously described in an Icelandic population. We have also found global significant DYT1 haplotype differences between patients and controls in the Italian series. These data suggest that further examination is warranted of the role genetic variability at this locus plays in the risk for primary dystonia. © 2006 Movement Disorder Society</div>
</front>
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<name sortKey="Singleton, Andrew B" sort="Singleton, Andrew B" uniqKey="Singleton A" first="Andrew B." last="Singleton">Andrew B. Singleton</name>
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<name sortKey="Brancati, Francesco" sort="Brancati, Francesco" uniqKey="Brancati F" first="Francesco" last="Brancati">Francesco Brancati</name>
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<name sortKey="Dallapiccola, Bruno" sort="Dallapiccola, Bruno" uniqKey="Dallapiccola B" first="Bruno" last="Dallapiccola">Bruno Dallapiccola</name>
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