LINGO1 polymorphisms are associated with essential tremor in Europeans
Identifieur interne : 000213 ( France/Analysis ); précédent : 000212; suivant : 000214LINGO1 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 ] ; 2010-04-30.
Descripteurs français
- Pascal (Inist)
English descriptors
- KwdEn :
- Adolescent, Adult, Aged, Aged, 80 and over, Chi-Square Distribution, Essential Tremor (epidemiology), Essential Tremor (genetics), Europe (epidemiology), European samples, Female, Gene Frequency, Genetic Predisposition to Disease, Genome-Wide Association Study (methods), Genotype, Humans, LINGO1, Male, Membrane Proteins (genetics), Middle Aged, Nerve Tissue Proteins (genetics), Nervous system diseases, Polymorphism, Polymorphism, Single Nucleotide (genetics), Tremor, Young Adult, association study, essential tremor, movement disorder.
- MESH :
- chemical , genetics : Membrane Proteins, Nerve Tissue Proteins.
- geographic , epidemiology : Europe.
- epidemiology : Essential Tremor.
- genetics : Essential Tremor, Polymorphism, Single Nucleotide.
- methods : Genome-Wide Association Study.
- Adolescent, Adult, Aged, Aged, 80 and over, Chi-Square Distribution, Female, Gene Frequency, Genetic Predisposition to Disease, Genotype, Humans, Male, Middle Aged, Young Adult.
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 = 1.0×10−4), rs9652490 (P = 9.1×10−4), and rs11856808 (P = 3.6×10−2) 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. LINGO1 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. © 2010 Movement Disorder Society
Url:
DOI: 10.1002/mds.22887
Affiliations:
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type="university">Université Pierre-et-Marie-Curie</orgName><placeName><settlement type="city">Paris</settlement><region type="region" nuts="2">Île-de-France</region></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"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute of Clinical Molecular Biology, Christian‐Albrechts‐University Kiel</wicri:regionArea><wicri:noRegion>Christian‐Albrechts‐University Kiel</wicri:noRegion><wicri:noRegion>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"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute of Clinical Molecular Biology, Christian‐Albrechts‐University Kiel</wicri:regionArea><wicri:noRegion>Christian‐Albrechts‐University Kiel</wicri:noRegion><wicri:noRegion>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"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute of Experimental Medicine, Christian‐Albrechts‐University, Kiel</wicri:regionArea><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"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, University Hospital Schleswig‐Holstein, Campus Kiel, Kiel</wicri:regionArea><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"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, University Hospital Schleswig‐Holstein, Campus Kiel, Kiel</wicri:regionArea><placeName><region type="land" nuts="2">Schleswig-Holstein</region><settlement type="city">Kiel</settlement></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="2010-04-30">2010-04-30</date><biblScope unit="vol">25</biblScope><biblScope unit="issue">6</biblScope><biblScope unit="page" from="717">717</biblScope><biblScope unit="page" to="723">723</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">A7E13DB82D350E12DB2E977BD0EFC2AF76398D80</idno><idno type="DOI">10.1002/mds.22887</idno><idno type="ArticleID">MDS22887</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Aged</term><term>Aged, 80 and over</term><term>Chi-Square Distribution</term><term>Essential Tremor (epidemiology)</term><term>Essential Tremor (genetics)</term><term>Europe (epidemiology)</term><term>European samples</term><term>Female</term><term>Gene Frequency</term><term>Genetic Predisposition to Disease</term><term>Genome-Wide Association Study (methods)</term><term>Genotype</term><term>Humans</term><term>LINGO1</term><term>Male</term><term>Membrane Proteins (genetics)</term><term>Middle Aged</term><term>Nerve Tissue Proteins (genetics)</term><term>Nervous system diseases</term><term>Polymorphism</term><term>Polymorphism, Single Nucleotide (genetics)</term><term>Tremor</term><term>Young Adult</term><term>association study</term><term>essential tremor</term><term>movement disorder</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Membrane Proteins</term><term>Nerve Tissue Proteins</term></keywords><keywords scheme="MESH" type="geographic" qualifier="epidemiology" xml:lang="en"><term>Europe</term></keywords><keywords scheme="MESH" qualifier="epidemiology" xml:lang="en"><term>Essential Tremor</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Essential Tremor</term><term>Polymorphism, Single Nucleotide</term></keywords><keywords scheme="MESH" qualifier="methods" xml:lang="en"><term>Genome-Wide Association Study</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Aged</term><term>Aged, 80 and over</term><term>Chi-Square Distribution</term><term>Female</term><term>Gene Frequency</term><term>Genetic Predisposition to Disease</term><term>Genotype</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Young Adult</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Pathologie du système nerveux</term><term>Polymorphisme</term><term>Tremblement</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></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 = 1.0×10−4), rs9652490 (P = 9.1×10−4), and rs11856808 (P = 3.6×10−2) 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. LINGO1 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. © 2010 Movement Disorder Society</div></front></TEI><affiliations><list><country><li>Allemagne</li><li>France</li></country><region><li>Schleswig-Holstein</li><li>Île-de-France</li></region><settlement><li>Kiel</li><li>Paris</li></settlement><orgName><li>Université Pierre-et-Marie-Curie</li></orgName></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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