LINGO1 polymorphisms are associated with essential tremor in Europeans.
Identifieur interne : 002B19 ( Ncbi/Merge ); précédent : 002B18; suivant : 002B20LINGO1 polymorphisms are associated with essential tremor in Europeans.
Auteurs : Sandra Thier [Allemagne] ; Delia Lorenz ; Michael Nothnagel ; Giovanni Stevanin ; Alexandra Dürr ; Almut Nebel ; Stefan Schreiber ; Gregor Kuhlenb Umer ; Günther Deuschl ; Stephan KlebeSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2010.
English descriptors
- KwdEn :
- Adolescent, Adult, Aged, Aged, 80 and over, Chi-Square Distribution, Essential Tremor (epidemiology), Essential Tremor (genetics), Europe (epidemiology), Female, Gene Frequency, Genetic Predisposition to Disease, Genome-Wide Association Study (methods), Genotype, Humans, Male, Membrane Proteins (genetics), Middle Aged, Nerve Tissue Proteins (genetics), Polymorphism, Single Nucleotide (genetics), Young Adult.
- 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 = 1.0x10(-4)), rs9652490 (P = 9.1x10(-4)), and rs11856808 (P = 3.6x10(-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.
DOI: 10.1002/mds.22887
PubMed: 20310002
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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="Lorenz, Delia" sort="Lorenz, Delia" uniqKey="Lorenz D" first="Delia" last="Lorenz">Delia Lorenz</name></author><author><name sortKey="Nothnagel, Michael" sort="Nothnagel, Michael" uniqKey="Nothnagel M" first="Michael" last="Nothnagel">Michael Nothnagel</name></author><author><name sortKey="Stevanin, Giovanni" sort="Stevanin, Giovanni" uniqKey="Stevanin G" first="Giovanni" last="Stevanin">Giovanni Stevanin</name></author><author><name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Dürr">Alexandra Dürr</name></author><author><name sortKey="Nebel, Almut" sort="Nebel, Almut" uniqKey="Nebel A" first="Almut" last="Nebel">Almut Nebel</name></author><author><name sortKey="Schreiber, Stefan" sort="Schreiber, Stefan" uniqKey="Schreiber S" first="Stefan" last="Schreiber">Stefan Schreiber</name></author><author><name sortKey="Kuhlenb Umer, Gregor" sort="Kuhlenb Umer, Gregor" uniqKey="Kuhlenb Umer G" first="Gregor" last="Kuhlenb Umer">Gregor Kuhlenb Umer</name></author><author><name sortKey="Deuschl, Gunther" sort="Deuschl, Gunther" uniqKey="Deuschl G" first="Günther" last="Deuschl">Günther Deuschl</name></author><author><name sortKey="Klebe, Stephan" sort="Klebe, Stephan" uniqKey="Klebe S" first="Stephan" last="Klebe">Stephan Klebe</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="eISSN">1531-8257</idno><imprint><date when="2010" type="published">2010</date></imprint></series></biblStruct></sourceDesc></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>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>Male</term><term>Membrane Proteins (genetics)</term><term>Middle Aged</term><term>Nerve Tissue Proteins (genetics)</term><term>Polymorphism, Single Nucleotide (genetics)</term><term>Young Adult</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></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 = 1.0x10(-4)), rs9652490 (P = 9.1x10(-4)), and rs11856808 (P = 3.6x10(-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.</div></front></TEI><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">20310002</PMID><DateCreated><Year>2010</Year><Month>05</Month><Day>03</Day></DateCreated><DateCompleted><Year>2010</Year><Month>07</Month><Day>28</Day></DateCompleted><DateRevised><Year>2011</Year><Month>07</Month><Day>18</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Electronic">1531-8257</ISSN><JournalIssue CitedMedium="Internet"><Volume>25</Volume><Issue>6</Issue><PubDate><Year>2010</Year><Month>Apr</Month><Day>30</Day></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. Disord.</ISOAbbreviation></Journal><ArticleTitle>LINGO1 polymorphisms are associated with essential tremor in Europeans.</ArticleTitle><Pagination><MedlinePgn>717-23</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1002/mds.22887</ELocationID><Abstract><AbstractText>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 = 1.0x10(-4)), rs9652490 (P = 9.1x10(-4)), and rs11856808 (P = 3.6x10(-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.</AbstractText><CopyrightInformation>2010 Movement Disorder Society</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Thier</LastName><ForeName>Sandra</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>Department of Neurology, University Hospital Schleswig-Holstein, Campus Kiel, Kiel, Germany.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Lorenz</LastName><ForeName>Delia</ForeName><Initials>D</Initials></Author><Author ValidYN="Y"><LastName>Nothnagel</LastName><ForeName>Michael</ForeName><Initials>M</Initials></Author><Author ValidYN="Y"><LastName>Stevanin</LastName><ForeName>Giovanni</ForeName><Initials>G</Initials></Author><Author ValidYN="Y"><LastName>Dürr</LastName><ForeName>Alexandra</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Nebel</LastName><ForeName>Almut</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Schreiber</LastName><ForeName>Stefan</ForeName><Initials>S</Initials></Author><Author ValidYN="Y"><LastName>Kuhlenbäumer</LastName><ForeName>Gregor</ForeName><Initials>G</Initials></Author><Author ValidYN="Y"><LastName>Deuschl</LastName><ForeName>Günther</ForeName><Initials>G</Initials></Author><Author ValidYN="Y"><LastName>Klebe</LastName><ForeName>Stephan</ForeName><Initials>S</Initials></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType></PublicationTypeList></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Mov Disord</MedlineTA><NlmUniqueID>8610688</NlmUniqueID><ISSNLinking>0885-3185</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="C482293">LINGO1 protein, human</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D008565">Membrane Proteins</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D009419">Nerve Tissue Proteins</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000293">Adolescent</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000328">Adult</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000368">Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000369">Aged, 80 and over</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D016009">Chi-Square Distribution</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D020329">Essential Tremor</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000453">epidemiology</QualifierName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" Type="Geographic" UI="D005060">Europe</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000453">epidemiology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005260">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005787">Gene Frequency</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="Y" UI="D020022">Genetic Predisposition to Disease</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D055106">Genome-Wide Association Study</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000379">methods</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005838">Genotype</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008297">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008565">Membrane Proteins</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008875">Middle Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D009419">Nerve Tissue Proteins</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D020641">Polymorphism, Single Nucleotide</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D055815">Young Adult</DescriptorName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="entrez"><Year>2010</Year><Month>3</Month><Day>24</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2010</Year><Month>3</Month><Day>24</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2010</Year><Month>7</Month><Day>29</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="doi">10.1002/mds.22887</ArticleId><ArticleId IdType="pubmed">20310002</ArticleId></ArticleIdList></PubmedData></pubmed><affiliations><list><country><li>Allemagne</li></country><region><li>Schleswig-Holstein</li></region><settlement><li>Kiel</li></settlement></list><tree><noCountry><name sortKey="Deuschl, Gunther" sort="Deuschl, Gunther" uniqKey="Deuschl G" first="Günther" last="Deuschl">Günther Deuschl</name><name sortKey="Durr, Alexandra" sort="Durr, Alexandra" uniqKey="Durr A" first="Alexandra" last="Dürr">Alexandra Dürr</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><name sortKey="Stevanin, Giovanni" sort="Stevanin, Giovanni" uniqKey="Stevanin G" first="Giovanni" last="Stevanin">Giovanni Stevanin</name></noCountry><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></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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