The TOR1A polymorphism rs1182 and the risk of spread in primary blepharospasm
Identifieur interne : 000941 ( Main/Exploration ); précédent : 000940; suivant : 000942The TOR1A polymorphism rs1182 and the risk of spread in primary blepharospasm
Auteurs : Giovanni Defazio [Italie] ; Mar Matarin [États-Unis] ; Elizabeth L. Peckham [États-Unis] ; Davide Martino [Italie] ; Enza M. Valente [Italie] ; Andrew Singleton [États-Unis] ; Anthony Crawley [États-Unis] ; Maria Stella Aniello [Italie] ; Francesco Brancati [Italie] ; Giovanni Abbruzzese [Italie] ; Paolo Girlanda [Italie] ; Paolo Livrea [Italie] ; Mark Hallett [États-Unis] ; Alfredo Berardelli [Italie]Source :
- Movement Disorders [ 0885-3185 ] ; 2009-03-15.
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Abstract
We studied the influence of the rs1182 polymorphism of the TOR1A gene on the risk of dystonia spread in two representative cohorts of patients presenting with primary blepharospasm (BSP), one from Italy and the other from the United States of America. The relationship between rs1182 polymorphism and spread was estimated by Kaplan‐Meier survival curves and Cox proportional hazard regression models adjusted by age and sex, age of BSP onset. In both series, patients carrying the T allele (G/T or T/T) in the rs1182 polymorphism were more likely to have dystonia spread as compared with the homozygous carriers of the common G allele. The comparable findings obtained in two independent cohorts support a genetic contribution to BSP spread. © 2009 Movement Disorder Society
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DOI: 10.1002/mds.22471
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Valente</name><affiliation wicri:level="3"><country xml:lang="fr">Italie</country><wicri:regionArea>Neurogenetics Unit, IRCCS CSS‐Mendel Institute, Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation></author><author><name sortKey="Singleton, Andrew" sort="Singleton, Andrew" uniqKey="Singleton A" first="Andrew" last="Singleton">Andrew Singleton</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Molecular Genetics Unit, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland</wicri:regionArea><placeName><region type="state">Maryland</region></placeName></affiliation></author><author><name sortKey="Crawley, Anthony" sort="Crawley, Anthony" uniqKey="Crawley A" first="Anthony" last="Crawley">Anthony Crawley</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Human Motor Control Section, NINDS, National Institutes of Health, Bethesda, Maryland</wicri:regionArea><placeName><region type="state">Maryland</region></placeName></affiliation></author><author><name sortKey="Aniello, Maria Stella" sort="Aniello, Maria Stella" uniqKey="Aniello M" first="Maria Stella" last="Aniello">Maria Stella Aniello</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Neurological and Psychiatric Sciences, University of Bari</wicri:regionArea><wicri:noRegion>University of Bari</wicri:noRegion></affiliation></author><author><name sortKey="Brancati, Francesco" sort="Brancati, Francesco" uniqKey="Brancati F" first="Francesco" last="Brancati">Francesco Brancati</name><affiliation wicri:level="3"><country xml:lang="fr">Italie</country><wicri:regionArea>Neurogenetics Unit, IRCCS CSS‐Mendel Institute, Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation></author><author><name sortKey="Abbruzzese, Giovanni" sort="Abbruzzese, Giovanni" uniqKey="Abbruzzese G" first="Giovanni" last="Abbruzzese">Giovanni Abbruzzese</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Neurosciences, Ophthalmology, and Genetics, University of Genoa</wicri:regionArea><wicri:noRegion>University of Genoa</wicri:noRegion></affiliation></author><author><name sortKey="Girlanda, Paolo" sort="Girlanda, Paolo" uniqKey="Girlanda P" first="Paolo" last="Girlanda">Paolo Girlanda</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Neurosciences, Psychiatry, and Anesthesiology, University of Messina</wicri:regionArea><wicri:noRegion>University of Messina</wicri:noRegion></affiliation></author><author><name sortKey="Livrea, Paolo" sort="Livrea, Paolo" uniqKey="Livrea P" first="Paolo" last="Livrea">Paolo Livrea</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Neurological and Psychiatric Sciences, University of Bari</wicri:regionArea><wicri:noRegion>University of Bari</wicri:noRegion></affiliation></author><author><name sortKey="Hallett, Mark" sort="Hallett, Mark" uniqKey="Hallett M" first="Mark" last="Hallett">Mark Hallett</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Human Motor Control Section, NINDS, National Institutes of Health, Bethesda, Maryland</wicri:regionArea><placeName><region type="state">Maryland</region></placeName></affiliation></author><author><name sortKey="Berardelli, Alfredo" sort="Berardelli, Alfredo" uniqKey="Berardelli A" first="Alfredo" last="Berardelli">Alfredo Berardelli</name><affiliation wicri:level="3"><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Neurological Sciences and NEUROMED Institute, “Sapienza” University, Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation></author></analytic><monogr></monogr><series><title level="j">Movement Disorders</title><title level="j" type="abbrev">Mov. Disord.</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2009-03-15">2009-03-15</date><biblScope unit="volume">24</biblScope><biblScope unit="issue">4</biblScope><biblScope unit="page" from="613">613</biblScope><biblScope unit="page" to="616">616</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">C7EBBEF829ABAE8EAD0A1F3BD338DB9E69C90252</idno><idno type="DOI">10.1002/mds.22471</idno><idno type="ArticleID">MDS22471</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>TOR1A</term><term>blepharospasm</term><term>dystonia</term><term>primary adult‐onset</term><term>single‐nucleotide polymorphisms</term><term>spread</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">We studied the influence of the rs1182 polymorphism of the TOR1A gene on the risk of dystonia spread in two representative cohorts of patients presenting with primary blepharospasm (BSP), one from Italy and the other from the United States of America. The relationship between rs1182 polymorphism and spread was estimated by Kaplan‐Meier survival curves and Cox proportional hazard regression models adjusted by age and sex, age of BSP onset. In both series, patients carrying the T allele (G/T or T/T) in the rs1182 polymorphism were more likely to have dystonia spread as compared with the homozygous carriers of the common G allele. The comparable findings obtained in two independent cohorts support a genetic contribution to BSP spread. © 2009 Movement Disorder Society</div></front></TEI><affiliations><list><country><li>Italie</li><li>États-Unis</li></country><region><li>Latium</li><li>Maryland</li></region><settlement><li>Rome</li></settlement></list><tree><country name="Italie"><noRegion><name sortKey="Defazio, Giovanni" sort="Defazio, Giovanni" uniqKey="Defazio G" first="Giovanni" last="Defazio">Giovanni Defazio</name></noRegion><name sortKey="Abbruzzese, Giovanni" sort="Abbruzzese, Giovanni" uniqKey="Abbruzzese G" first="Giovanni" last="Abbruzzese">Giovanni Abbruzzese</name><name sortKey="Aniello, Maria Stella" sort="Aniello, Maria Stella" uniqKey="Aniello M" first="Maria Stella" last="Aniello">Maria Stella Aniello</name><name sortKey="Berardelli, Alfredo" sort="Berardelli, Alfredo" uniqKey="Berardelli A" first="Alfredo" last="Berardelli">Alfredo Berardelli</name><name sortKey="Brancati, Francesco" sort="Brancati, Francesco" uniqKey="Brancati F" first="Francesco" last="Brancati">Francesco Brancati</name><name sortKey="Girlanda, Paolo" sort="Girlanda, Paolo" uniqKey="Girlanda P" first="Paolo" last="Girlanda">Paolo Girlanda</name><name sortKey="Livrea, Paolo" sort="Livrea, Paolo" uniqKey="Livrea P" first="Paolo" last="Livrea">Paolo Livrea</name><name sortKey="Martino, Davide" sort="Martino, Davide" uniqKey="Martino D" first="Davide" last="Martino">Davide Martino</name><name sortKey="Valente, Enza M" sort="Valente, Enza M" uniqKey="Valente E" first="Enza M." last="Valente">Enza M. Valente</name></country><country name="États-Unis"><region name="Maryland"><name sortKey="Matarin, Mar" sort="Matarin, Mar" uniqKey="Matarin M" first="Mar" last="Matarin">Mar Matarin</name></region><name sortKey="Crawley, Anthony" sort="Crawley, Anthony" uniqKey="Crawley A" first="Anthony" last="Crawley">Anthony Crawley</name><name sortKey="Hallett, Mark" sort="Hallett, Mark" uniqKey="Hallett M" first="Mark" last="Hallett">Mark Hallett</name><name sortKey="Peckham, Elizabeth L" sort="Peckham, Elizabeth L" uniqKey="Peckham E" first="Elizabeth L." last="Peckham">Elizabeth L. Peckham</name><name sortKey="Singleton, Andrew" sort="Singleton, Andrew" uniqKey="Singleton A" first="Andrew" last="Singleton">Andrew Singleton</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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