LINGO1 Polymorphisms Are Associated with Essential Tremor in Europeans
Identifieur interne : 002580 ( Main/Merge ); précédent : 002579; suivant : 002581LINGO1 Polymorphisms Are Associated with Essential Tremor in Europeans
Auteurs : Sandra Thier [Allemagne] ; Delia Lorenz [Allemagne] ; Michael Nothnagel [Allemagne] ; Giovanni Stevanin [France] ; Alexandra Dürr [France] ; Almut Nebel [Allemagne] ; Stefan Schreiber [Allemagne] ; Gregor Kuhlenb Umer [Allemagne] ; Günther Deuschl [Allemagne] ; Stephan Klebe [Allemagne]Source :
- Movement disorders [ 0885-3185 ] ; 2010.
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Abstract
Essential tremor (ET) is one of the most common movement disorders. Former association studies focussing on candidate genes in ET found a number of risk variants but most of them were not replicated. Recently, a genome-wide association study revealed two intronic sequence variants in the LINGO1 gene associated with ET. Here, we have confirmed association between sequence variants in the LINGO1 gene and the ET phenotype in independent German and French ET samples. The odds ratios for the identified intronic markers rs8030859 (P = 1.0 X 10-4) , rs9652490 (P = 9.1 X 10-4), and rs11856808 (P = 3.6 X 10-2) were 1.72 (CI 1.31-2.26), 1.61 (CI 1.21-2.14), and 1.30 (CI 1.02-1.66), respectively, in our German sample. LlNGO1 is an interesting candidate gene because it plays a key role in central nervous system biology, is selectively expressed in the nervous system, and is an inhibitor of oligodendrocyte differentiation and neuronal myelination. Our study gives further evidence that LINGO1 acts as a susceptibility gene for ET.
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uniqKey="Nebel A" first="Almut" last="Nebel">Almut Nebel</name><affiliation wicri:level="1"><inist:fA14 i1="06"><s1>Institute of Clinical Molecular Biology, Christian-Albrechts-University Kiel</s1><s3>DEU</s3><sZ>6 aut.</sZ><sZ>7 aut.</sZ></inist:fA14><country>Allemagne</country><wicri:noRegion>Christian-Albrechts-University Kiel</wicri:noRegion><wicri:noRegion>Institute of Clinical Molecular Biology, Christian-Albrechts-University Kiel</wicri:noRegion></affiliation></author><author><name sortKey="Schreiber, Stefan" sort="Schreiber, Stefan" uniqKey="Schreiber S" first="Stefan" last="Schreiber">Stefan Schreiber</name><affiliation wicri:level="1"><inist:fA14 i1="06"><s1>Institute of Clinical Molecular Biology, Christian-Albrechts-University Kiel</s1><s3>DEU</s3><sZ>6 aut.</sZ><sZ>7 aut.</sZ></inist:fA14><country>Allemagne</country><wicri:noRegion>Christian-Albrechts-University Kiel</wicri:noRegion><wicri:noRegion>Institute of Clinical Molecular Biology, Christian-Albrechts-University Kiel</wicri:noRegion></affiliation></author><author><name sortKey="Kuhlenb Umer, Gregor" sort="Kuhlenb Umer, Gregor" uniqKey="Kuhlenb Umer G" first="Gregor" last="Kuhlenb Umer">Gregor Kuhlenb Umer</name><affiliation wicri:level="3"><inist:fA14 i1="07"><s1>Institute of Experimental Medicine, Christian-Albrechts-University</s1><s2>Kiel</s2><s3>DEU</s3><sZ>8 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="2">Schleswig-Holstein</region><settlement type="city">Kiel</settlement></placeName></affiliation></author><author><name sortKey="Deuschl, Gunther" sort="Deuschl, Gunther" uniqKey="Deuschl G" first="Günther" last="Deuschl">Günther Deuschl</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Neurology, University Hospital Schleswig-Holstein, Campus Kiel</s1><s2>Kiel</s2><s3>DEU</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="2">Schleswig-Holstein</region><settlement type="city">Kiel</settlement></placeName></affiliation></author><author><name sortKey="Klebe, Stephan" sort="Klebe, Stephan" uniqKey="Klebe S" first="Stephan" last="Klebe">Stephan Klebe</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Neurology, University Hospital Schleswig-Holstein, Campus Kiel</s1><s2>Kiel</s2><s3>DEU</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="2">Schleswig-Holstein</region><settlement type="city">Kiel</settlement></placeName></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">INIST</idno><idno type="inist">10-0233092</idno><date when="2010">2010</date><idno type="stanalyst">PASCAL 10-0233092 INIST</idno><idno type="RBID">Pascal:10-0233092</idno><idno type="wicri:Area/PascalFrancis/Corpus">000B65</idno><idno type="wicri:Area/PascalFrancis/Curation">002154</idno><idno type="wicri:Area/PascalFrancis/Checkpoint">000993</idno><idno type="wicri:doubleKey">0885-3185:2010:Thier S:lingo:polymorphisms:are</idno><idno type="wicri:Area/Main/Merge">002580</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">LINGO1 Polymorphisms Are Associated with Essential Tremor in Europeans</title><author><name sortKey="Thier, Sandra" sort="Thier, Sandra" uniqKey="Thier S" first="Sandra" last="Thier">Sandra Thier</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Neurology, University Hospital Schleswig-Holstein, Campus Kiel</s1><s2>Kiel</s2><s3>DEU</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="2">Schleswig-Holstein</region><settlement type="city">Kiel</settlement></placeName></affiliation></author><author><name sortKey="Lorenz, Delia" sort="Lorenz, Delia" uniqKey="Lorenz D" first="Delia" last="Lorenz">Delia Lorenz</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Neurology, University Hospital Schleswig-Holstein, Campus Kiel</s1><s2>Kiel</s2><s3>DEU</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="2">Schleswig-Holstein</region><settlement type="city">Kiel</settlement></placeName></affiliation></author><author><name sortKey="Nothnagel, Michael" sort="Nothnagel, Michael" uniqKey="Nothnagel M" first="Michael" last="Nothnagel">Michael Nothnagel</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Institute of Medical Informatics and Statistics, Christian-Albrechts-University Kiel</s1><s3>DEU</s3><sZ>3 aut.</sZ></inist:fA14><country>Allemagne</country><wicri:noRegion>Christian-Albrechts-University Kiel</wicri:noRegion><wicri:noRegion>Institute of Medical Informatics and Statistics, Christian-Albrechts-University Kiel</wicri:noRegion></affiliation></author><author><name sortKey="Stevanin, Giovanni" sort="Stevanin, Giovanni" uniqKey="Stevanin G" first="Giovanni" last="Stevanin">Giovanni Stevanin</name><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Department of Genetics and Cytogenetics, AP-HP, Pitié-Salpetrière Hospital</s1><s2>Paris</s2><s3>FRA</s3><sZ>4 aut.</sZ><sZ>5 aut.</sZ></inist:fA14><country>France</country><placeName><settlement type="city">Paris</settlement></placeName></affiliation><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>INSERM, U975</s1><s2>Paris</s2><s3>FRA</s3><sZ>4 aut.</sZ><sZ>5 aut.</sZ></inist:fA14><country>France</country><placeName><settlement type="city">Paris</settlement></placeName></affiliation><affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Université Pierre et Marie Curie-Paris 6, UMR_S975, CNRS7225, Centre de Recherche Insitut du Cerveau et de la Moelle, Pitié-Salpêtrière Hospital</s1><s2>Paris</s2><s3>FRA</s3><sZ>4 aut.</sZ><sZ>5 aut.</sZ></inist:fA14><country>France</country><placeName><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Dürr">Alexandra Dürr</name><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Department of Genetics and Cytogenetics, AP-HP, Pitié-Salpetrière Hospital</s1><s2>Paris</s2><s3>FRA</s3><sZ>4 aut.</sZ><sZ>5 aut.</sZ></inist:fA14><country>France</country><placeName><settlement type="city">Paris</settlement></placeName></affiliation><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>INSERM, U975</s1><s2>Paris</s2><s3>FRA</s3><sZ>4 aut.</sZ><sZ>5 aut.</sZ></inist:fA14><country>France</country><placeName><settlement type="city">Paris</settlement></placeName></affiliation><affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Université Pierre et Marie Curie-Paris 6, UMR_S975, CNRS7225, Centre de Recherche Insitut du Cerveau et de la Moelle, Pitié-Salpêtrière Hospital</s1><s2>Paris</s2><s3>FRA</s3><sZ>4 aut.</sZ><sZ>5 aut.</sZ></inist:fA14><country>France</country><placeName><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Nebel, Almut" sort="Nebel, Almut" uniqKey="Nebel A" first="Almut" last="Nebel">Almut Nebel</name><affiliation wicri:level="1"><inist:fA14 i1="06"><s1>Institute of Clinical Molecular Biology, Christian-Albrechts-University Kiel</s1><s3>DEU</s3><sZ>6 aut.</sZ><sZ>7 aut.</sZ></inist:fA14><country>Allemagne</country><wicri:noRegion>Christian-Albrechts-University Kiel</wicri:noRegion><wicri:noRegion>Institute of Clinical Molecular Biology, Christian-Albrechts-University Kiel</wicri:noRegion></affiliation></author><author><name sortKey="Schreiber, Stefan" sort="Schreiber, Stefan" uniqKey="Schreiber S" first="Stefan" last="Schreiber">Stefan Schreiber</name><affiliation wicri:level="1"><inist:fA14 i1="06"><s1>Institute of Clinical Molecular Biology, Christian-Albrechts-University Kiel</s1><s3>DEU</s3><sZ>6 aut.</sZ><sZ>7 aut.</sZ></inist:fA14><country>Allemagne</country><wicri:noRegion>Christian-Albrechts-University Kiel</wicri:noRegion><wicri:noRegion>Institute of Clinical Molecular Biology, Christian-Albrechts-University Kiel</wicri:noRegion></affiliation></author><author><name sortKey="Kuhlenb Umer, Gregor" sort="Kuhlenb Umer, Gregor" uniqKey="Kuhlenb Umer G" first="Gregor" last="Kuhlenb Umer">Gregor Kuhlenb Umer</name><affiliation wicri:level="3"><inist:fA14 i1="07"><s1>Institute of Experimental Medicine, Christian-Albrechts-University</s1><s2>Kiel</s2><s3>DEU</s3><sZ>8 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="2">Schleswig-Holstein</region><settlement type="city">Kiel</settlement></placeName></affiliation></author><author><name sortKey="Deuschl, Gunther" sort="Deuschl, Gunther" uniqKey="Deuschl G" first="Günther" last="Deuschl">Günther Deuschl</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Neurology, University Hospital Schleswig-Holstein, Campus Kiel</s1><s2>Kiel</s2><s3>DEU</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="2">Schleswig-Holstein</region><settlement type="city">Kiel</settlement></placeName></affiliation></author><author><name sortKey="Klebe, Stephan" sort="Klebe, Stephan" uniqKey="Klebe S" first="Stephan" last="Klebe">Stephan Klebe</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Neurology, University Hospital Schleswig-Holstein, Campus Kiel</s1><s2>Kiel</s2><s3>DEU</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>9 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="2">Schleswig-Holstein</region><settlement type="city">Kiel</settlement></placeName></affiliation></author></analytic><series><title level="j" type="main">Movement disorders</title><title level="j" type="abbreviated">Mov. disord.</title><idno type="ISSN">0885-3185</idno><imprint><date when="2010">2010</date></imprint></series></biblStruct></sourceDesc><seriesStmt><title level="j" type="main">Movement disorders</title><title level="j" type="abbreviated">Mov. disord.</title><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Nervous system diseases</term><term>Polymorphism</term><term>Tremor</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Tremblement</term><term>Pathologie du système nerveux</term><term>Polymorphisme</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Essential tremor (ET) is one of the most common movement disorders. Former association studies focussing on candidate genes in ET found a number of risk variants but most of them were not replicated. Recently, a genome-wide association study revealed two intronic sequence variants in the LINGO1 gene associated with ET. Here, we have confirmed association between sequence variants in the LINGO1 gene and the ET phenotype in independent German and French ET samples. The odds ratios for the identified intronic markers rs8030859 (P = 1.0 X 10<sup>-4</sup>) , rs9652490 (P = 9.1 X 10<sup>-4</sup>), and rs11856808 (P = 3.6 X 10<sup>-2</sup>) were 1.72 (CI 1.31-2.26), 1.61 (CI 1.21-2.14), and 1.30 (CI 1.02-1.66), respectively, in our German sample. LlNGO1 is an interesting candidate gene because it plays a key role in central nervous system biology, is selectively expressed in the nervous system, and is an inhibitor of oligodendrocyte differentiation and neuronal myelination. Our study gives further evidence that LINGO1 acts as a susceptibility gene for ET.</div></front></TEI><affiliations><list><country><li>Allemagne</li><li>France</li></country><region><li>Schleswig-Holstein</li></region><settlement><li>Kiel</li><li>Paris</li></settlement></list><tree><country name="Allemagne"><region name="Schleswig-Holstein"><name sortKey="Thier, Sandra" sort="Thier, Sandra" uniqKey="Thier S" first="Sandra" last="Thier">Sandra Thier</name></region><name sortKey="Deuschl, Gunther" sort="Deuschl, Gunther" uniqKey="Deuschl G" first="Günther" last="Deuschl">Günther Deuschl</name><name sortKey="Klebe, Stephan" sort="Klebe, Stephan" uniqKey="Klebe S" first="Stephan" last="Klebe">Stephan Klebe</name><name sortKey="Kuhlenb Umer, Gregor" sort="Kuhlenb Umer, Gregor" uniqKey="Kuhlenb Umer G" first="Gregor" last="Kuhlenb Umer">Gregor Kuhlenb Umer</name><name sortKey="Lorenz, Delia" sort="Lorenz, Delia" uniqKey="Lorenz D" first="Delia" last="Lorenz">Delia Lorenz</name><name sortKey="Nebel, Almut" sort="Nebel, Almut" uniqKey="Nebel A" first="Almut" last="Nebel">Almut Nebel</name><name sortKey="Nothnagel, Michael" sort="Nothnagel, Michael" uniqKey="Nothnagel M" first="Michael" last="Nothnagel">Michael Nothnagel</name><name sortKey="Schreiber, Stefan" sort="Schreiber, Stefan" uniqKey="Schreiber S" first="Stefan" last="Schreiber">Stefan Schreiber</name></country><country name="France"><noRegion><name sortKey="Stevanin, Giovanni" sort="Stevanin, Giovanni" uniqKey="Stevanin G" first="Giovanni" last="Stevanin">Giovanni Stevanin</name></noRegion><name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Dürr">Alexandra Dürr</name><name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Dürr">Alexandra Dürr</name><name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Dürr">Alexandra Dürr</name><name sortKey="Stevanin, Giovanni" sort="Stevanin, Giovanni" uniqKey="Stevanin G" first="Giovanni" last="Stevanin">Giovanni Stevanin</name><name sortKey="Stevanin, Giovanni" sort="Stevanin, Giovanni" uniqKey="Stevanin G" first="Giovanni" last="Stevanin">Giovanni Stevanin</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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