Genetic variants of α‐synuclein are not associated with essential tremor
Identifieur interne : 001368 ( Main/Corpus ); précédent : 001367; suivant : 001369Genetic variants of α‐synuclein are not associated with essential tremor
Auteurs : Owen A. Ross ; Karen N. Conneely ; Tao Wang ; Carles Vilarino-Guell ; Alexandra I. Soto-Ortolaza ; Alex Rajput ; Zbigniew K. Wszolek ; Ryan J. Uitti ; Elan D. Louis ; Lorraine N. Clark ; Matthew J. Farrer ; Claudia M. TestaSource :
- Movement Disorders [ 0885-3185 ] ; 2011-12.
English descriptors
- KwdEn :
Abstract
Background:: Given the overlap between Parkinson's disease and essential tremor, we examined genetic variants in α‐synuclein (SNCA) as risk determinants for essential tremor. Methods:: Samples from 661 essential tremor subjects and 1316 control subjects from 4 participating North American sites were included in this study. Parkinson's disease samples (n = 427) were compared against controls. Twenty variants were selected for association analysis within the SNCA locus. Individual logistic regression analyses against essential tremor diagnosis were run for each variant and then combined using meta‐analysis. Results:: Our results do not show a significant association between variants in the SNCA locus and risk of essential tremor, whereas the established association of SNCA variants with Parkinson's disease risk was observed. Conclusions:: Whereas genetic factors are likely to play a large role in essential tremor pathogenesis, our results do not support a role for common SNCA genetic variants in risk for essential tremor. © 2011 Movement Disorder Society
Url:
DOI: 10.1002/mds.23909
Links to Exploration step
ISTEX:8C72B14F84E40CE12A581D78436F96A69A90A30FLe document en format XML
<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Genetic variants of α‐synuclein are not associated with essential tremor</title><author><name sortKey="Ross, Owen A" sort="Ross, Owen A" uniqKey="Ross O" first="Owen A." last="Ross">Owen A. Ross</name><affiliation><mods:affiliation>Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</mods:affiliation></affiliation></author><author><name sortKey="Conneely, Karen N" sort="Conneely, Karen N" uniqKey="Conneely K" first="Karen N." last="Conneely">Karen N. Conneely</name><affiliation><mods:affiliation>Department of Human Genetics, Emory University, Atlanta, Georgia, USA</mods:affiliation></affiliation></author><author><name sortKey="Wang, Tao" sort="Wang, Tao" uniqKey="Wang T" first="Tao" last="Wang">Tao Wang</name><affiliation><mods:affiliation>Department of Human Genetics, Emory University, Atlanta, Georgia, USA</mods:affiliation></affiliation></author><author><name sortKey="Vilarino Uell, Carles" sort="Vilarino Uell, Carles" uniqKey="Vilarino Uell C" first="Carles" last="Vilarino-Guell">Carles Vilarino-Guell</name><affiliation><mods:affiliation>Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada</mods:affiliation></affiliation></author><author><name sortKey="Soto Rtolaza, Alexandra I" sort="Soto Rtolaza, Alexandra I" uniqKey="Soto Rtolaza A" first="Alexandra I." last="Soto-Ortolaza">Alexandra I. Soto-Ortolaza</name><affiliation><mods:affiliation>Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</mods:affiliation></affiliation></author><author><name sortKey="Rajput, Alex" sort="Rajput, Alex" uniqKey="Rajput A" first="Alex" last="Rajput">Alex Rajput</name><affiliation><mods:affiliation>Division of Neurology, University of Saskatchewan, Saskatoon, Saskatchewan, Canada</mods:affiliation></affiliation></author><author><name sortKey="Wszolek, Zbigniew K" sort="Wszolek, Zbigniew K" uniqKey="Wszolek Z" first="Zbigniew K." last="Wszolek">Zbigniew K. Wszolek</name><affiliation><mods:affiliation>Department of Neurology, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</mods:affiliation></affiliation></author><author><name sortKey="Uitti, Ryan J" sort="Uitti, Ryan J" uniqKey="Uitti R" first="Ryan J." last="Uitti">Ryan J. Uitti</name><affiliation><mods:affiliation>Department of Neurology, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</mods:affiliation></affiliation></author><author><name sortKey="Louis, Elan D" sort="Louis, Elan D" uniqKey="Louis E" first="Elan D." last="Louis">Elan D. Louis</name><affiliation><mods:affiliation>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, USA</mods:affiliation></affiliation></author><author><name sortKey="Clark, Lorraine N" sort="Clark, Lorraine N" uniqKey="Clark L" first="Lorraine N." last="Clark">Lorraine N. Clark</name><affiliation><mods:affiliation>Department of Pathology, College of Physicians and Surgeons, Columbia University, New York, USA</mods:affiliation></affiliation></author><author><name sortKey="Farrer, Matthew J" sort="Farrer, Matthew J" uniqKey="Farrer M" first="Matthew J." last="Farrer">Matthew J. Farrer</name><affiliation><mods:affiliation>Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada</mods:affiliation></affiliation></author><author><name sortKey="Testa, Claudia M" sort="Testa, Claudia M" uniqKey="Testa C" first="Claudia M." last="Testa">Claudia M. Testa</name><affiliation><mods:affiliation>Department of Neurology, Emory University, Atlanta, Georgia, USA</mods:affiliation></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:8C72B14F84E40CE12A581D78436F96A69A90A30F</idno><date when="2011" year="2011">2011</date><idno type="doi">10.1002/mds.23909</idno><idno type="url">https://api.istex.fr/document/8C72B14F84E40CE12A581D78436F96A69A90A30F/fulltext/pdf</idno><idno type="wicri:Area/Main/Corpus">001368</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Genetic variants of α‐synuclein are not associated with essential tremor</title><author><name sortKey="Ross, Owen A" sort="Ross, Owen A" uniqKey="Ross O" first="Owen A." last="Ross">Owen A. Ross</name><affiliation><mods:affiliation>Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</mods:affiliation></affiliation></author><author><name sortKey="Conneely, Karen N" sort="Conneely, Karen N" uniqKey="Conneely K" first="Karen N." last="Conneely">Karen N. Conneely</name><affiliation><mods:affiliation>Department of Human Genetics, Emory University, Atlanta, Georgia, USA</mods:affiliation></affiliation></author><author><name sortKey="Wang, Tao" sort="Wang, Tao" uniqKey="Wang T" first="Tao" last="Wang">Tao Wang</name><affiliation><mods:affiliation>Department of Human Genetics, Emory University, Atlanta, Georgia, USA</mods:affiliation></affiliation></author><author><name sortKey="Vilarino Uell, Carles" sort="Vilarino Uell, Carles" uniqKey="Vilarino Uell C" first="Carles" last="Vilarino-Guell">Carles Vilarino-Guell</name><affiliation><mods:affiliation>Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada</mods:affiliation></affiliation></author><author><name sortKey="Soto Rtolaza, Alexandra I" sort="Soto Rtolaza, Alexandra I" uniqKey="Soto Rtolaza A" first="Alexandra I." last="Soto-Ortolaza">Alexandra I. Soto-Ortolaza</name><affiliation><mods:affiliation>Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</mods:affiliation></affiliation></author><author><name sortKey="Rajput, Alex" sort="Rajput, Alex" uniqKey="Rajput A" first="Alex" last="Rajput">Alex Rajput</name><affiliation><mods:affiliation>Division of Neurology, University of Saskatchewan, Saskatoon, Saskatchewan, Canada</mods:affiliation></affiliation></author><author><name sortKey="Wszolek, Zbigniew K" sort="Wszolek, Zbigniew K" uniqKey="Wszolek Z" first="Zbigniew K." last="Wszolek">Zbigniew K. Wszolek</name><affiliation><mods:affiliation>Department of Neurology, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</mods:affiliation></affiliation></author><author><name sortKey="Uitti, Ryan J" sort="Uitti, Ryan J" uniqKey="Uitti R" first="Ryan J." last="Uitti">Ryan J. Uitti</name><affiliation><mods:affiliation>Department of Neurology, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</mods:affiliation></affiliation></author><author><name sortKey="Louis, Elan D" sort="Louis, Elan D" uniqKey="Louis E" first="Elan D." last="Louis">Elan D. Louis</name><affiliation><mods:affiliation>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, USA</mods:affiliation></affiliation></author><author><name sortKey="Clark, Lorraine N" sort="Clark, Lorraine N" uniqKey="Clark L" first="Lorraine N." last="Clark">Lorraine N. Clark</name><affiliation><mods:affiliation>Department of Pathology, College of Physicians and Surgeons, Columbia University, New York, USA</mods:affiliation></affiliation></author><author><name sortKey="Farrer, Matthew J" sort="Farrer, Matthew J" uniqKey="Farrer M" first="Matthew J." last="Farrer">Matthew J. Farrer</name><affiliation><mods:affiliation>Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada</mods:affiliation></affiliation></author><author><name sortKey="Testa, Claudia M" sort="Testa, Claudia M" uniqKey="Testa C" first="Claudia M." last="Testa">Claudia M. Testa</name><affiliation><mods:affiliation>Department of Neurology, Emory University, Atlanta, Georgia, USA</mods:affiliation></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="2011-12">2011-12</date><biblScope unit="volume">26</biblScope><biblScope unit="issue">14</biblScope><biblScope unit="page" from="2552">2552</biblScope><biblScope unit="page" to="2556">2556</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">8C72B14F84E40CE12A581D78436F96A69A90A30F</idno><idno type="DOI">10.1002/mds.23909</idno><idno type="ArticleID">MDS23909</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Parkinson's disease</term><term>association studies in genetics</term><term>essential tremor</term><term>parkinsonism</term><term>synuclein</term><term>tremor</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Background:: Given the overlap between Parkinson's disease and essential tremor, we examined genetic variants in α‐synuclein (SNCA) as risk determinants for essential tremor. Methods:: Samples from 661 essential tremor subjects and 1316 control subjects from 4 participating North American sites were included in this study. Parkinson's disease samples (n = 427) were compared against controls. Twenty variants were selected for association analysis within the SNCA locus. Individual logistic regression analyses against essential tremor diagnosis were run for each variant and then combined using meta‐analysis. Results:: Our results do not show a significant association between variants in the SNCA locus and risk of essential tremor, whereas the established association of SNCA variants with Parkinson's disease risk was observed. Conclusions:: Whereas genetic factors are likely to play a large role in essential tremor pathogenesis, our results do not support a role for common SNCA genetic variants in risk for essential tremor. © 2011 Movement Disorder Society</div></front></TEI><istex><corpusName>wiley</corpusName><author><json:item><name>Owen A. Ross PhD</name><affiliations><json:string>Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</json:string></affiliations></json:item><json:item><name>Karen N. Conneely PhD</name><affiliations><json:string>Department of Human Genetics, Emory University, Atlanta, Georgia, USA</json:string></affiliations></json:item><json:item><name>Tao Wang MS</name><affiliations><json:string>Department of Human Genetics, Emory University, Atlanta, Georgia, USA</json:string></affiliations></json:item><json:item><name>Carles Vilarino‐Guell PhD</name><affiliations><json:string>Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</json:string><json:string>Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada</json:string></affiliations></json:item><json:item><name>Alexandra I. Soto‐Ortolaza BSc</name><affiliations><json:string>Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</json:string></affiliations></json:item><json:item><name>Alex Rajput MD</name><affiliations><json:string>Division of Neurology, University of Saskatchewan, Saskatoon, Saskatchewan, Canada</json:string></affiliations></json:item><json:item><name>Zbigniew K. Wszolek MD</name><affiliations><json:string>Department of Neurology, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</json:string></affiliations></json:item><json:item><name>Ryan J. Uitti MD</name><affiliations><json:string>Department of Neurology, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</json:string></affiliations></json:item><json:item><name>Elan D. Louis MD</name><affiliations><json:string>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, USA</json:string></affiliations></json:item><json:item><name>Lorraine N. Clark PhD</name><affiliations><json:string>Department of Pathology, College of Physicians and Surgeons, Columbia University, New York, USA</json:string></affiliations></json:item><json:item><name>Matthew J. Farrer PhD</name><affiliations><json:string>Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</json:string><json:string>Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada</json:string></affiliations></json:item><json:item><name>Claudia M. Testa MD, PhD</name><affiliations><json:string>Department of Neurology, Emory University, Atlanta, Georgia, USA</json:string></affiliations></json:item></author><subject><json:item><lang><json:string>eng</json:string></lang><value>tremor</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>essential tremor</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>association studies in genetics</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>Parkinson's disease</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>parkinsonism</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>synuclein</value></json:item></subject><articleId><json:string>MDS23909</json:string></articleId><language><json:string>eng</json:string></language><abstract>Background:: Given the overlap between Parkinson's disease and essential tremor, we examined genetic variants in α‐synuclein (SNCA) as risk determinants for essential tremor. Methods:: Samples from 661 essential tremor subjects and 1316 control subjects from 4 participating North American sites were included in this study. Parkinson's disease samples (n = 427) were compared against controls. Twenty variants were selected for association analysis within the SNCA locus. Individual logistic regression analyses against essential tremor diagnosis were run for each variant and then combined using meta‐analysis. Results:: Our results do not show a significant association between variants in the SNCA locus and risk of essential tremor, whereas the established association of SNCA variants with Parkinson's disease risk was observed. Conclusions:: Whereas genetic factors are likely to play a large role in essential tremor pathogenesis, our results do not support a role for common SNCA genetic variants in risk for essential tremor. © 2011 Movement Disorder Society</abstract><qualityIndicators><score>6.848</score><pdfVersion>1.3</pdfVersion><pdfPageSize>612 x 810 pts</pdfPageSize><refBibsNative>true</refBibsNative><keywordCount>6</keywordCount><abstractCharCount>1068</abstractCharCount><pdfWordCount>12490</pdfWordCount><pdfCharCount>83283</pdfCharCount><pdfPageCount>20</pdfPageCount><abstractWordCount>154</abstractWordCount></qualityIndicators><title>Genetic variants of α‐synuclein are not associated with essential tremor</title><genre><json:string>article</json:string></genre><host><volume>26</volume><publisherId><json:string>MDS</json:string></publisherId><pages><total>5</total><last>2556</last><first>2552</first></pages><issn><json:string>0885-3185</json:string></issn><issue>14</issue><subject><json:item><value>Brief Report</value></json:item></subject><genre><json:string>Journal</json:string></genre><language><json:string>unknown</json:string></language><eissn><json:string>1531-8257</json:string></eissn><title>Movement Disorders</title><doi><json:string>10.1002/(ISSN)1531-8257</json:string></doi></host><publicationDate>2011</publicationDate><copyrightDate>2011</copyrightDate><doi><json:string>10.1002/mds.23909</json:string></doi><id>8C72B14F84E40CE12A581D78436F96A69A90A30F</id><fulltext><json:item><original>true</original><mimetype>application/pdf</mimetype><extension>pdf</extension><uri>https://api.istex.fr/document/8C72B14F84E40CE12A581D78436F96A69A90A30F/fulltext/pdf</uri></json:item><json:item><original>false</original><mimetype>application/zip</mimetype><extension>zip</extension><uri>https://api.istex.fr/document/8C72B14F84E40CE12A581D78436F96A69A90A30F/fulltext/zip</uri></json:item><istex:fulltextTEI uri="https://api.istex.fr/document/8C72B14F84E40CE12A581D78436F96A69A90A30F/fulltext/tei"><teiHeader><fileDesc><titleStmt><title level="a" type="main" xml:lang="en">Genetic variants of α‐synuclein are not associated with essential tremor</title></titleStmt><publicationStmt><authority>ISTEX</authority><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><availability><p>WILEY</p></availability><date>2011</date></publicationStmt><notesStmt><note type="content">*Funding agencies: This work is supported by a Morris K. Udall Parkinson's Disease Research Center of Excellence (NINDS P50 NS072187) and American Parkinson's Disease Association grant (O.A.R.); Emory Neuroscience NINDS Core Facilities grant P30NS055077; National Institute of Aging Emory Alzheimer's Disease Research Center P50 AG025688; Emory General Clinical Research Center NIH/NCRR M01 RR00039, and PHS UL1 RR025008 from the Clinical and Translational Science Award Program, NIH, National Center for Research Resources (NCRR) (C.M.T.); Mayo Clinic Florida Research Committee Essential Tremor grant (Z.K.W. and R.J.U.); family of Carl and Susan Bolch (O.A.R., Z.K.W., and R.J.U.); NIH grants R01 NS039422 and R01 NS42859 (E.D.L.); The Parkinson Disease Foundation (L.N.C.).</note><note type="content">*Relevant conflicts of interest/financial disclosures:</note><note type="content">*Full financial disclosures and author roles may be found in the online version of this article.</note></notesStmt><sourceDesc><biblStruct type="inbook"><analytic><title level="a" type="main" xml:lang="en">Genetic variants of α‐synuclein are not associated with essential tremor</title><author><persName><forename type="first">Owen A.</forename><surname>Ross</surname></persName><roleName type="degree">PhD</roleName><affiliation>Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</affiliation></author><author><persName><forename type="first">Karen N.</forename><surname>Conneely</surname></persName><roleName type="degree">PhD</roleName><affiliation>Department of Human Genetics, Emory University, Atlanta, Georgia, USA</affiliation></author><author><persName><forename type="first">Tao</forename><surname>Wang</surname></persName><roleName type="degree">MS</roleName><affiliation>Department of Human Genetics, Emory University, Atlanta, Georgia, USA</affiliation></author><author><persName><forename type="first">Carles</forename><surname>Vilarino‐Guell</surname></persName><roleName type="degree">PhD</roleName><affiliation>Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</affiliation><affiliation>Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada</affiliation></author><author><persName><forename type="first">Alexandra I.</forename><surname>Soto‐Ortolaza</surname></persName><roleName type="degree">BSc</roleName><affiliation>Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</affiliation></author><author><persName><forename type="first">Alex</forename><surname>Rajput</surname></persName><roleName type="degree">MD</roleName><affiliation>Division of Neurology, University of Saskatchewan, Saskatoon, Saskatchewan, Canada</affiliation></author><author><persName><forename type="first">Zbigniew K.</forename><surname>Wszolek</surname></persName><roleName type="degree">MD</roleName><affiliation>Department of Neurology, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</affiliation></author><author><persName><forename type="first">Ryan J.</forename><surname>Uitti</surname></persName><roleName type="degree">MD</roleName><affiliation>Department of Neurology, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</affiliation></author><author><persName><forename type="first">Elan D.</forename><surname>Louis</surname></persName><roleName type="degree">MD</roleName><affiliation>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, USA</affiliation></author><author><persName><forename type="first">Lorraine N.</forename><surname>Clark</surname></persName><roleName type="degree">PhD</roleName><affiliation>Department of Pathology, College of Physicians and Surgeons, Columbia University, New York, USA</affiliation></author><author><persName><forename type="first">Matthew J.</forename><surname>Farrer</surname></persName><roleName type="degree">PhD</roleName><affiliation>Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</affiliation><affiliation>Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada</affiliation></author><author><persName><forename type="first">Claudia M.</forename><surname>Testa</surname></persName><roleName type="degree">MD, PhD</roleName><note type="correspondence"><p>Correspondence: 1841 Clifton Road, NE, 3rd Floor, Atlanta, GA 30329</p></note><affiliation>Department of Neurology, Emory University, Atlanta, Georgia, USA</affiliation></author></analytic><monogr><title level="j">Movement Disorders</title><title level="j" type="abbrev">Mov. Disord.</title><idno type="pISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><idno type="DOI">10.1002/(ISSN)1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2011-12"></date><biblScope unit="volume">26</biblScope><biblScope unit="issue">14</biblScope><biblScope unit="page" from="2552">2552</biblScope><biblScope unit="page" to="2556">2556</biblScope></imprint></monogr><idno type="istex">8C72B14F84E40CE12A581D78436F96A69A90A30F</idno><idno type="DOI">10.1002/mds.23909</idno><idno type="ArticleID">MDS23909</idno></biblStruct></sourceDesc></fileDesc><profileDesc><creation><date>2011</date></creation><langUsage><language ident="en">en</language></langUsage><abstract xml:lang="en"><p>Background:: Given the overlap between Parkinson's disease and essential tremor, we examined genetic variants in α‐synuclein (SNCA) as risk determinants for essential tremor. Methods:: Samples from 661 essential tremor subjects and 1316 control subjects from 4 participating North American sites were included in this study. Parkinson's disease samples (n = 427) were compared against controls. Twenty variants were selected for association analysis within the SNCA locus. Individual logistic regression analyses against essential tremor diagnosis were run for each variant and then combined using meta‐analysis. Results:: Our results do not show a significant association between variants in the SNCA locus and risk of essential tremor, whereas the established association of SNCA variants with Parkinson's disease risk was observed. Conclusions:: Whereas genetic factors are likely to play a large role in essential tremor pathogenesis, our results do not support a role for common SNCA genetic variants in risk for essential tremor. © 2011 Movement Disorder Society</p></abstract><textClass xml:lang="en"><keywords scheme="keyword"><list><head>Keywords</head><item><term>tremor</term></item><item><term>essential tremor</term></item><item><term>association studies in genetics</term></item><item><term>Parkinson's disease</term></item><item><term>parkinsonism</term></item><item><term>synuclein</term></item></list></keywords></textClass><textClass><keywords scheme="Journal Subject"><list><head>article category</head><item><term>Brief Report</term></item></list></keywords></textClass></profileDesc><revisionDesc><change when="2011-01-31">Received</change><change when="2011-07-18">Registration</change><change when="2011-12">Published</change></revisionDesc></teiHeader></istex:fulltextTEI><json:item><original>false</original><mimetype>text/plain</mimetype><extension>txt</extension><uri>https://api.istex.fr/document/8C72B14F84E40CE12A581D78436F96A69A90A30F/fulltext/txt</uri></json:item></fulltext><metadata><istex:metadataXml wicri:clean="Wiley, elements deleted: body"><istex:xmlDeclaration>version="1.0" encoding="UTF-8" standalone="yes"</istex:xmlDeclaration><istex:document><component version="2.0" type="serialArticle" xml:lang="en"><header><publicationMeta level="product"><publisherInfo><publisherName>Wiley Subscription Services, Inc., A Wiley Company</publisherName><publisherLoc>Hoboken</publisherLoc></publisherInfo><doi registered="yes">10.1002/(ISSN)1531-8257</doi><issn type="print">0885-3185</issn><issn type="electronic">1531-8257</issn><idGroup><id type="product" value="MDS"></id></idGroup><titleGroup><title type="main" xml:lang="en" sort="MOVEMENT DISORDERS">Movement Disorders</title><title type="short">Mov. Disord.</title></titleGroup></publicationMeta><publicationMeta level="part" position="140"><doi origin="wiley" registered="yes">10.1002/mds.v26.14</doi><numberingGroup><numbering type="journalVolume" number="26">26</numbering><numbering type="journalIssue">14</numbering></numberingGroup><coverDate startDate="2011-12">December 2011</coverDate></publicationMeta><publicationMeta level="unit" type="article" position="230" status="forIssue"><doi origin="wiley" registered="yes">10.1002/mds.23909</doi><idGroup><id type="unit" value="MDS23909"></id></idGroup><countGroup><count type="pageTotal" number="5"></count></countGroup><titleGroup><title type="articleCategory">Brief Report</title><title type="tocHeading1">Brief Reports</title></titleGroup><copyright ownership="thirdParty">Copyright © 2011 Movement Disorder Society</copyright><eventGroup><event type="manuscriptReceived" date="2011-01-31"></event><event type="manuscriptRevised" date="2011-05-25"></event><event type="manuscriptAccepted" date="2011-07-18"></event><event type="xmlConverted" agent="Converter:JWSART34_TO_WML3G version:3.0.1 mode:FullText" date="2012-01-13"></event><event type="publishedOnlineEarlyUnpaginated" date="2011-10-24"></event><event type="publishedOnlineFinalForm" date="2011-12-14"></event><event type="firstOnline" date="2011-10-24"></event><event type="xmlConverted" agent="Converter:WILEY_ML3G_TO_WILEY_ML3GV2 version:3.8.8" date="2014-02-02"></event><event type="xmlConverted" agent="Converter:WML3G_To_WML3G version:4.1.7 mode:FullText,remove_FC" date="2014-10-31"></event></eventGroup><numberingGroup><numbering type="pageFirst">2552</numbering><numbering type="pageLast">2556</numbering></numberingGroup><correspondenceTo>1841 Clifton Road, NE, 3rd Floor, Atlanta, GA 30329</correspondenceTo><linkGroup><link type="toTypesetVersion" href="file:MDS.MDS23909.pdf"></link></linkGroup></publicationMeta><contentMeta><countGroup><count type="figureTotal" number="0"></count><count type="tableTotal" number="2"></count><count type="referenceTotal" number="38"></count><count type="wordTotal" number="6541"></count></countGroup><titleGroup><title type="main" xml:lang="en">Genetic variants of α‐synuclein are not associated with essential tremor<link href="#fn1"></link><link href="#fn2"></link><link href="#fn3"></link></title><title type="short" xml:lang="en"><i>SNCA</i> Variants and Essential Tremor</title></titleGroup><creators><creator xml:id="au1" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Owen A.</givenNames><familyName>Ross</familyName><degrees>PhD</degrees></personName></creator><creator xml:id="au2" creatorRole="author" affiliationRef="#af2"><personName><givenNames>Karen N.</givenNames><familyName>Conneely</familyName><degrees>PhD</degrees></personName></creator><creator xml:id="au3" creatorRole="author" affiliationRef="#af2"><personName><givenNames>Tao</givenNames><familyName>Wang</familyName><degrees>MS</degrees></personName></creator><creator xml:id="au4" creatorRole="author" affiliationRef="#af1 #af3"><personName><givenNames>Carles</givenNames><familyName>Vilarino‐Guell</familyName><degrees>PhD</degrees></personName></creator><creator xml:id="au5" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Alexandra I.</givenNames><familyName>Soto‐Ortolaza</familyName><degrees>BSc</degrees></personName></creator><creator xml:id="au6" creatorRole="author" affiliationRef="#af4"><personName><givenNames>Alex</givenNames><familyName>Rajput</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au7" creatorRole="author" affiliationRef="#af5"><personName><givenNames>Zbigniew K.</givenNames><familyName>Wszolek</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au8" creatorRole="author" affiliationRef="#af5"><personName><givenNames>Ryan J.</givenNames><familyName>Uitti</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au9" creatorRole="author" affiliationRef="#af6"><personName><givenNames>Elan D.</givenNames><familyName>Louis</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au10" creatorRole="author" affiliationRef="#af7"><personName><givenNames>Lorraine N.</givenNames><familyName>Clark</familyName><degrees>PhD</degrees></personName></creator><creator xml:id="au11" creatorRole="author" affiliationRef="#af1 #af3"><personName><givenNames>Matthew J.</givenNames><familyName>Farrer</familyName><degrees>PhD</degrees></personName></creator><creator xml:id="au12" creatorRole="author" affiliationRef="#af8" corresponding="yes"><personName><givenNames>Claudia M.</givenNames><familyName>Testa</familyName><degrees>MD, PhD</degrees></personName><contactDetails><email>ctesta@emory.edu</email></contactDetails></creator></creators><affiliationGroup><affiliation xml:id="af1" countryCode="US" type="organization"><unparsedAffiliation>Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</unparsedAffiliation></affiliation><affiliation xml:id="af2" countryCode="US" type="organization"><unparsedAffiliation>Department of Human Genetics, Emory University, Atlanta, Georgia, USA</unparsedAffiliation></affiliation><affiliation xml:id="af3" countryCode="CA" type="organization"><unparsedAffiliation>Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada</unparsedAffiliation></affiliation><affiliation xml:id="af4" countryCode="CA" type="organization"><unparsedAffiliation>Division of Neurology, University of Saskatchewan, Saskatoon, Saskatchewan, Canada</unparsedAffiliation></affiliation><affiliation xml:id="af5" countryCode="US" type="organization"><unparsedAffiliation>Department of Neurology, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</unparsedAffiliation></affiliation><affiliation xml:id="af6" countryCode="US" type="organization"><unparsedAffiliation>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, USA</unparsedAffiliation></affiliation><affiliation xml:id="af7" countryCode="US" type="organization"><unparsedAffiliation>Department of Pathology, College of Physicians and Surgeons, Columbia University, New York, USA</unparsedAffiliation></affiliation><affiliation xml:id="af8" countryCode="US" type="organization"><unparsedAffiliation>Department of Neurology, Emory University, Atlanta, Georgia, USA</unparsedAffiliation></affiliation></affiliationGroup><keywordGroup xml:lang="en" type="author"><keyword xml:id="kwd1">tremor</keyword><keyword xml:id="kwd2">essential tremor</keyword><keyword xml:id="kwd3">association studies in genetics</keyword><keyword xml:id="kwd4">Parkinson's disease</keyword><keyword xml:id="kwd5">parkinsonism</keyword><keyword xml:id="kwd6">synuclein</keyword></keywordGroup><supportingInformation><p> Additional Supporting Information may be found in the online version of this article. </p><supportingInfoItem><mediaResource alt="supporting information" href="urn-x:wiley:08853185:media:mds23909:MDS_23909_sm_SuppTab1"></mediaResource><caption>Supplemental Table 1: Primer sequences.</caption></supportingInfoItem><supportingInfoItem><mediaResource alt="supporting information" href="urn-x:wiley:08853185:media:mds23909:MDS_23909_sm_SuppTab2"></mediaResource><caption>Supplemental Table 2: Statistical power to detect an association with individual SNPs (a = .05), based on genotype relative risk (GRR), average minor allele frequency (MAF) across cohorts, and total number of available samples.</caption></supportingInfoItem><supportingInfoItem><mediaResource alt="supporting information" href="urn-x:wiley:08853185:media:mds23909:MDS_23909_sm_SuppTab3"></mediaResource><caption>Supplementary Table 3: Minor allele frequencies (MAF) and odds ratios (OR) from association tests of PD and 20 SNPs throughout the SNCA locus (in Mayo Clinic samples only).</caption></supportingInfoItem></supportingInformation><abstractGroup><abstract type="main" xml:lang="en"><title type="main">Abstract</title><section xml:id="abs1-1"><title type="main">Background:</title><p>Given the overlap between Parkinson's disease and essential tremor, we examined genetic variants in α‐synuclein (<i>SNCA</i>) as risk determinants for essential tremor.</p></section><section xml:id="abs1-2"><title type="main">Methods:</title><p>Samples from 661 essential tremor subjects and 1316 control subjects from 4 participating North American sites were included in this study. Parkinson's disease samples (n = 427) were compared against controls. Twenty variants were selected for association analysis within the <i>SNCA</i> locus. Individual logistic regression analyses against essential tremor diagnosis were run for each variant and then combined using meta‐analysis.</p></section><section xml:id="abs1-3"><title type="main">Results:</title><p>Our results do not show a significant association between variants in the <i>SNCA</i> locus and risk of essential tremor, whereas the established association of <i>SNCA</i> variants with Parkinson's disease risk was observed.</p></section><section xml:id="abs1-4"><title type="main">Conclusions:</title><p>Whereas genetic factors are likely to play a large role in essential tremor pathogenesis, our results do not support a role for common <i>SNCA</i> genetic variants in risk for essential tremor. © 2011 Movement Disorder Society</p></section></abstract></abstractGroup></contentMeta><noteGroup><note xml:id="fn1"><p><b>Funding agencies:</b> This work is supported by a Morris K. Udall Parkinson's Disease Research Center of Excellence (NINDS P50 NS072187) and American Parkinson's Disease Association grant (O.A.R.); Emory Neuroscience NINDS Core Facilities grant P30NS055077; National Institute of Aging Emory Alzheimer's Disease Research Center P50 AG025688; Emory General Clinical Research Center NIH/NCRR M01 RR00039, and PHS UL1 RR025008 from the Clinical and Translational Science Award Program, NIH, National Center for Research Resources (NCRR) (C.M.T.); Mayo Clinic Florida Research Committee Essential Tremor grant (Z.K.W. and R.J.U.); family of Carl and Susan Bolch (O.A.R., Z.K.W., and R.J.U.); NIH grants R01 NS039422 and R01 NS42859 (E.D.L.); The Parkinson Disease Foundation (L.N.C.).</p></note><note xml:id="fn2"><p><b>Relevant conflicts of interest/financial disclosures:</b></p></note><note xml:id="fn3"><p>Full financial disclosures and author roles may be found in the online version of this article.</p></note></noteGroup></header></component></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>Genetic variants of α‐synuclein are not associated with essential tremor</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>SNCA Variants and Essential Tremor</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Genetic variants of α‐synuclein are not associated with essential tremor</title></titleInfo><name type="personal"><namePart type="given">Owen A.</namePart><namePart type="family">Ross</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Karen N.</namePart><namePart type="family">Conneely</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Department of Human Genetics, Emory University, Atlanta, Georgia, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Tao</namePart><namePart type="family">Wang</namePart><namePart type="termsOfAddress">MS</namePart><affiliation>Department of Human Genetics, Emory University, Atlanta, Georgia, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Carles</namePart><namePart type="family">Vilarino‐Guell</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</affiliation><affiliation>Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Alexandra I.</namePart><namePart type="family">Soto‐Ortolaza</namePart><namePart type="termsOfAddress">BSc</namePart><affiliation>Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Alex</namePart><namePart type="family">Rajput</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Division of Neurology, University of Saskatchewan, Saskatoon, Saskatchewan, Canada</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Zbigniew K.</namePart><namePart type="family">Wszolek</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Ryan J.</namePart><namePart type="family">Uitti</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Elan D.</namePart><namePart type="family">Louis</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Lorraine N.</namePart><namePart type="family">Clark</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Department of Pathology, College of Physicians and Surgeons, Columbia University, New York, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Matthew J.</namePart><namePart type="family">Farrer</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</affiliation><affiliation>Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Claudia M.</namePart><namePart type="family">Testa</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Department of Neurology, Emory University, Atlanta, Georgia, USA</affiliation><description>Correspondence: 1841 Clifton Road, NE, 3rd Floor, Atlanta, GA 30329</description><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre type="article" displayLabel="article"></genre><originInfo><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><place><placeTerm type="text">Hoboken</placeTerm></place><dateIssued encoding="w3cdtf">2011-12</dateIssued><dateCaptured encoding="w3cdtf">2011-01-31</dateCaptured><dateValid encoding="w3cdtf">2011-07-18</dateValid><copyrightDate encoding="w3cdtf">2011</copyrightDate></originInfo><language><languageTerm type="code" authority="rfc3066">en</languageTerm><languageTerm type="code" authority="iso639-2b">eng</languageTerm></language><physicalDescription><internetMediaType>text/html</internetMediaType><extent unit="tables">2</extent><extent unit="references">38</extent><extent unit="words">6541</extent></physicalDescription><abstract lang="en">Background:: Given the overlap between Parkinson's disease and essential tremor, we examined genetic variants in α‐synuclein (SNCA) as risk determinants for essential tremor. Methods:: Samples from 661 essential tremor subjects and 1316 control subjects from 4 participating North American sites were included in this study. Parkinson's disease samples (n = 427) were compared against controls. Twenty variants were selected for association analysis within the SNCA locus. Individual logistic regression analyses against essential tremor diagnosis were run for each variant and then combined using meta‐analysis. Results:: Our results do not show a significant association between variants in the SNCA locus and risk of essential tremor, whereas the established association of SNCA variants with Parkinson's disease risk was observed. Conclusions:: Whereas genetic factors are likely to play a large role in essential tremor pathogenesis, our results do not support a role for common SNCA genetic variants in risk for essential tremor. © 2011 Movement Disorder Society</abstract><note type="content">*Funding agencies: This work is supported by a Morris K. Udall Parkinson's Disease Research Center of Excellence (NINDS P50 NS072187) and American Parkinson's Disease Association grant (O.A.R.); Emory Neuroscience NINDS Core Facilities grant P30NS055077; National Institute of Aging Emory Alzheimer's Disease Research Center P50 AG025688; Emory General Clinical Research Center NIH/NCRR M01 RR00039, and PHS UL1 RR025008 from the Clinical and Translational Science Award Program, NIH, National Center for Research Resources (NCRR) (C.M.T.); Mayo Clinic Florida Research Committee Essential Tremor grant (Z.K.W. and R.J.U.); family of Carl and Susan Bolch (O.A.R., Z.K.W., and R.J.U.); NIH grants R01 NS039422 and R01 NS42859 (E.D.L.); The Parkinson Disease Foundation (L.N.C.).</note><note type="content">*Relevant conflicts of interest/financial disclosures:</note><note type="content">*Full financial disclosures and author roles may be found in the online version of this article.</note><subject lang="en"><genre>Keywords</genre><topic>tremor</topic><topic>essential tremor</topic><topic>association studies in genetics</topic><topic>Parkinson's disease</topic><topic>parkinsonism</topic><topic>synuclein</topic></subject><relatedItem type="host"><titleInfo><title>Movement Disorders</title></titleInfo><titleInfo type="abbreviated"><title>Mov. Disord.</title></titleInfo><genre type="Journal">journal</genre><note type="content"> Additional Supporting Information may be found in the online version of this article.Supporting Info Item: Supplemental Table 1: Primer sequences. - Supplemental Table 2: Statistical power to detect an association with individual SNPs (a = .05), based on genotype relative risk (GRR), average minor allele frequency (MAF) across cohorts, and total number of available samples. - Supplementary Table 3: Minor allele frequencies (MAF) and odds ratios (OR) from association tests of PD and 20 SNPs throughout the SNCA locus (in Mayo Clinic samples only). - </note><subject><genre>article category</genre><topic>Brief Report</topic></subject><identifier type="ISSN">0885-3185</identifier><identifier type="eISSN">1531-8257</identifier><identifier type="DOI">10.1002/(ISSN)1531-8257</identifier><identifier type="PublisherID">MDS</identifier><part><date>2011</date><detail type="volume"><caption>vol.</caption><number>26</number></detail><detail type="issue"><caption>no.</caption><number>14</number></detail><extent unit="pages"><start>2552</start><end>2556</end><total>5</total></extent></part></relatedItem><identifier type="istex">8C72B14F84E40CE12A581D78436F96A69A90A30F</identifier><identifier type="DOI">10.1002/mds.23909</identifier><identifier type="ArticleID">MDS23909</identifier><accessCondition type="use and reproduction" contentType="copyright">Copyright © 2011 Movement Disorder Society</accessCondition><recordInfo><recordContentSource>WILEY</recordContentSource><recordOrigin>Wiley Subscription Services, Inc., A Wiley Company</recordOrigin></recordInfo></mods></metadata><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Sante/explor/ParkinsonV1/Data/Main/Corpus
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 001368 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Main/Corpus/biblio.hfd -nk 001368 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Sante
|area= ParkinsonV1
|flux= Main
|étape= Corpus
|type= RBID
|clé= ISTEX:8C72B14F84E40CE12A581D78436F96A69A90A30F
|texte= Genetic variants of α‐synuclein are not associated with essential tremor
}}
| This area was generated with Dilib version V0.6.23. |  |