LINGO1 Polymorphisms Are Associated with Essential Tremor in Europeans
Identifieur interne : 000B65 ( PascalFrancis/Corpus ); précédent : 000B64; suivant : 000B66LINGO1 Polymorphisms Are Associated with Essential Tremor in Europeans
Auteurs : Sandra Thier ; Delia Lorenz ; Michael Nothnagel ; Giovanni Stevanin ; Alexandra Dürr ; Almut Nebel ; Stefan Schreiber ; Gregor Kuhlenb Umer ; Günther Deuschl ; Stephan KlebeSource :
- 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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| NO : | PASCAL 10-0233092 INIST |
|---|---|
| ET : | LINGO1 Polymorphisms Are Associated with Essential Tremor in Europeans |
| AU : | THIER (Sandra); LORENZ (Delia); NOTHNAGEL (Michael); STEVANIN (Giovanni); DÜRR (Alexandra); NEBEL (Almut); SCHREIBER (Stefan); KUHLENBÄUMER (Gregor); DEUSCHL (Günther); KLEBE (Stephan) |
| AF : | Department of Neurology, University Hospital Schleswig-Holstein, Campus Kiel/Kiel/Allemagne (1 aut., 2 aut., 9 aut., 10 aut.); Institute of Medical Informatics and Statistics, Christian-Albrechts-University Kiel/Allemagne (3 aut.); Department of Genetics and Cytogenetics, AP-HP, Pitié-Salpetrière Hospital/Paris/France (4 aut., 5 aut.); INSERM, U975/Paris/France (4 aut., 5 aut.); Université Pierre et Marie Curie-Paris 6, UMR_S975, CNRS7225, Centre de Recherche Insitut du Cerveau et de la Moelle, Pitié-Salpêtrière Hospital/Paris/France (4 aut., 5 aut.); Institute of Clinical Molecular Biology, Christian-Albrechts-University Kiel/Allemagne (6 aut., 7 aut.); Institute of Experimental Medicine, Christian-Albrechts-University/Kiel/Allemagne (8 aut.) |
| DT : | Publication en série; Niveau analytique |
| SO : | Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2010; Vol. 25; No. 6; Pp. 717-723; Bibl. 40 ref. |
| LA : | Anglais |
| EA : | 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. |
| CC : | 002B17; 002B17A01 |
| FD : | Tremblement; Pathologie du système nerveux; Polymorphisme |
| FG : | Mouvement involontaire; Trouble neurologique |
| ED : | Tremor; Nervous system diseases; Polymorphism |
| EG : | Involuntary movement; Neurological disorder |
| SD : | Temblor; Sistema nervioso patología; Polimorfismo |
| LO : | INIST-20953.354000181078480080 |
| ID : | 10-0233092 |
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Pascal:10-0233092Le document en format XML
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Europeans</title><author><name sortKey="Thier, Sandra" sort="Thier, Sandra" uniqKey="Thier S" first="Sandra" last="Thier">Sandra Thier</name><affiliation><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></affiliation></author><author><name sortKey="Lorenz, Delia" sort="Lorenz, Delia" uniqKey="Lorenz D" first="Delia" last="Lorenz">Delia Lorenz</name><affiliation><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></affiliation></author><author><name sortKey="Nothnagel, Michael" sort="Nothnagel, Michael" uniqKey="Nothnagel M" first="Michael" last="Nothnagel">Michael Nothnagel</name><affiliation><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></affiliation></author><author><name sortKey="Stevanin, Giovanni" sort="Stevanin, Giovanni" uniqKey="Stevanin G" first="Giovanni" last="Stevanin">Giovanni Stevanin</name><affiliation><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></affiliation><affiliation><inist:fA14 i1="04"><s1>INSERM, U975</s1><s2>Paris</s2><s3>FRA</s3><sZ>4 aut.</sZ><sZ>5 aut.</sZ></inist:fA14></affiliation><affiliation><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></affiliation></author><author><name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Dürr">Alexandra Dürr</name><affiliation><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></affiliation><affiliation><inist:fA14 i1="04"><s1>INSERM, U975</s1><s2>Paris</s2><s3>FRA</s3><sZ>4 aut.</sZ><sZ>5 aut.</sZ></inist:fA14></affiliation><affiliation><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></affiliation></author><author><name sortKey="Nebel, Almut" sort="Nebel, Almut" uniqKey="Nebel A" first="Almut" last="Nebel">Almut Nebel</name><affiliation><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></affiliation></author><author><name sortKey="Schreiber, Stefan" sort="Schreiber, Stefan" uniqKey="Schreiber S" first="Stefan" last="Schreiber">Stefan Schreiber</name><affiliation><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></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><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></affiliation></author><author><name sortKey="Deuschl, Gunther" sort="Deuschl, Gunther" uniqKey="Deuschl G" first="Günther" last="Deuschl">Günther Deuschl</name><affiliation><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></affiliation></author><author><name sortKey="Klebe, Stephan" sort="Klebe, Stephan" uniqKey="Klebe S" first="Stephan" last="Klebe">Stephan Klebe</name><affiliation><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></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><inist><standard h6="B"><pA><fA01 i1="01" i2="1"><s0>0885-3185</s0></fA01><fA03 i2="1"><s0>Mov. disord.</s0></fA03><fA05><s2>25</s2></fA05><fA06><s2>6</s2></fA06><fA08 i1="01" i2="1" l="ENG"><s1>LINGO1 Polymorphisms Are Associated with Essential Tremor in Europeans</s1></fA08><fA11 i1="01" i2="1"><s1>THIER (Sandra)</s1></fA11><fA11 i1="02" i2="1"><s1>LORENZ (Delia)</s1></fA11><fA11 i1="03" i2="1"><s1>NOTHNAGEL (Michael)</s1></fA11><fA11 i1="04" i2="1"><s1>STEVANIN (Giovanni)</s1></fA11><fA11 i1="05" i2="1"><s1>DÜRR (Alexandra)</s1></fA11><fA11 i1="06" i2="1"><s1>NEBEL (Almut)</s1></fA11><fA11 i1="07" i2="1"><s1>SCHREIBER (Stefan)</s1></fA11><fA11 i1="08" i2="1"><s1>KUHLENBÄUMER (Gregor)</s1></fA11><fA11 i1="09" i2="1"><s1>DEUSCHL (Günther)</s1></fA11><fA11 i1="10" i2="1"><s1>KLEBE (Stephan)</s1></fA11><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></fA14><fA14 i1="02"><s1>Institute of Medical Informatics and Statistics, Christian-Albrechts-University Kiel</s1><s3>DEU</s3><sZ>3 aut.</sZ></fA14><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></fA14><fA14 i1="04"><s1>INSERM, U975</s1><s2>Paris</s2><s3>FRA</s3><sZ>4 aut.</sZ><sZ>5 aut.</sZ></fA14><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></fA14><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></fA14><fA14 i1="07"><s1>Institute of Experimental Medicine, Christian-Albrechts-University</s1><s2>Kiel</s2><s3>DEU</s3><sZ>8 aut.</sZ></fA14><fA20><s1>717-723</s1></fA20><fA21><s1>2010</s1></fA21><fA23 i1="01"><s0>ENG</s0></fA23><fA43 i1="01"><s1>INIST</s1><s2>20953</s2><s5>354000181078480080</s5></fA43><fA44><s0>0000</s0><s1>© 2010 INIST-CNRS. All rights reserved.</s1></fA44><fA45><s0>40 ref.</s0></fA45><fA47 i1="01" i2="1"><s0>10-0233092</s0></fA47><fA60><s1>P</s1></fA60><fA61><s0>A</s0></fA61><fA64 i1="01" i2="1"><s0>Movement disorders</s0></fA64><fA66 i1="01"><s0>USA</s0></fA66><fC01 i1="01" l="ENG"><s0>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.</s0></fC01><fC02 i1="01" i2="X"><s0>002B17</s0></fC02><fC02 i1="02" i2="X"><s0>002B17A01</s0></fC02><fC03 i1="01" i2="X" l="FRE"><s0>Tremblement</s0><s5>01</s5></fC03><fC03 i1="01" i2="X" l="ENG"><s0>Tremor</s0><s5>01</s5></fC03><fC03 i1="01" i2="X" l="SPA"><s0>Temblor</s0><s5>01</s5></fC03><fC03 i1="02" i2="X" l="FRE"><s0>Pathologie du système nerveux</s0><s5>02</s5></fC03><fC03 i1="02" i2="X" l="ENG"><s0>Nervous system diseases</s0><s5>02</s5></fC03><fC03 i1="02" i2="X" l="SPA"><s0>Sistema nervioso patología</s0><s5>02</s5></fC03><fC03 i1="03" i2="X" l="FRE"><s0>Polymorphisme</s0><s5>09</s5></fC03><fC03 i1="03" i2="X" l="ENG"><s0>Polymorphism</s0><s5>09</s5></fC03><fC03 i1="03" i2="X" l="SPA"><s0>Polimorfismo</s0><s5>09</s5></fC03><fC07 i1="01" i2="X" l="FRE"><s0>Mouvement involontaire</s0><s5>37</s5></fC07><fC07 i1="01" i2="X" l="ENG"><s0>Involuntary movement</s0><s5>37</s5></fC07><fC07 i1="01" i2="X" l="SPA"><s0>Movimiento involuntario</s0><s5>37</s5></fC07><fC07 i1="02" i2="X" l="FRE"><s0>Trouble neurologique</s0><s5>39</s5></fC07><fC07 i1="02" i2="X" l="ENG"><s0>Neurological disorder</s0><s5>39</s5></fC07><fC07 i1="02" i2="X" l="SPA"><s0>Trastorno neurológico</s0><s5>39</s5></fC07><fN21><s1>158</s1></fN21><fN44 i1="01"><s1>OTO</s1></fN44><fN82><s1>OTO</s1></fN82></pA></standard><server><NO>PASCAL 10-0233092 INIST</NO><ET>LINGO1 Polymorphisms Are Associated with Essential Tremor in Europeans</ET><AU>THIER (Sandra); LORENZ (Delia); NOTHNAGEL (Michael); STEVANIN (Giovanni); DÜRR (Alexandra); NEBEL (Almut); SCHREIBER (Stefan); KUHLENBÄUMER (Gregor); DEUSCHL (Günther); KLEBE (Stephan)</AU><AF>Department of Neurology, University Hospital Schleswig-Holstein, Campus Kiel/Kiel/Allemagne (1 aut., 2 aut., 9 aut., 10 aut.); Institute of Medical Informatics and Statistics, Christian-Albrechts-University Kiel/Allemagne (3 aut.); Department of Genetics and Cytogenetics, AP-HP, Pitié-Salpetrière Hospital/Paris/France (4 aut., 5 aut.); INSERM, U975/Paris/France (4 aut., 5 aut.); Université Pierre et Marie Curie-Paris 6, UMR_S975, CNRS7225, Centre de Recherche Insitut du Cerveau et de la Moelle, Pitié-Salpêtrière Hospital/Paris/France (4 aut., 5 aut.); Institute of Clinical Molecular Biology, Christian-Albrechts-University Kiel/Allemagne (6 aut., 7 aut.); Institute of Experimental Medicine, Christian-Albrechts-University/Kiel/Allemagne (8 aut.)</AF><DT>Publication en série; Niveau analytique</DT><SO>Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2010; Vol. 25; No. 6; Pp. 717-723; Bibl. 40 ref.</SO><LA>Anglais</LA><EA>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.</EA><CC>002B17; 002B17A01</CC><FD>Tremblement; Pathologie du système nerveux; Polymorphisme</FD><FG>Mouvement involontaire; Trouble neurologique</FG><ED>Tremor; Nervous system diseases; Polymorphism</ED><EG>Involuntary movement; Neurological disorder</EG><SD>Temblor; Sistema nervioso patología; Polimorfismo</SD><LO>INIST-20953.354000181078480080</LO><ID>10-0233092</ID></server></inist></record>Pour manipuler ce document sous Unix (Dilib)
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