Genetic variants of α‐synuclein are not associated with essential tremor
Identifieur interne : 000307 ( Main/Exploration ); précédent : 000306; suivant : 000308Genetic variants of α‐synuclein are not associated with essential tremor
Auteurs : Owen A. Ross [États-Unis] ; Karen N. Conneely [États-Unis] ; Tao Wang [États-Unis] ; Carles Vilarino-Guell [États-Unis, Canada] ; Alexandra I. Soto-Ortolaza [États-Unis] ; Alex Rajput [Canada] ; Zbigniew K. Wszolek [États-Unis] ; Ryan J. Uitti [États-Unis] ; Elan D. Louis [États-Unis] ; Lorraine N. Clark [États-Unis] ; Matthew J. Farrer [États-Unis, Canada] ; Claudia M. Testa [États-Unis]Source :
- Movement Disorders [ 0885-3185 ] ; 2011-12.
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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
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DOI: 10.1002/mds.23909
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Conneely</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Human Genetics, Emory University, Atlanta, Georgia</wicri:regionArea><placeName><region type="state">Géorgie (États-Unis)</region></placeName></affiliation></author><author><name sortKey="Wang, Tao" sort="Wang, Tao" uniqKey="Wang T" first="Tao" last="Wang">Tao Wang</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Human Genetics, Emory University, Atlanta, Georgia</wicri:regionArea><placeName><region type="state">Géorgie (États-Unis)</region></placeName></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 wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida</wicri:regionArea><placeName><region type="state">Floride</region></placeName></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia</wicri:regionArea><wicri:noRegion>British Columbia</wicri:noRegion></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 wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida</wicri:regionArea><placeName><region type="state">Floride</region></placeName></affiliation></author><author><name sortKey="Rajput, Alex" sort="Rajput, Alex" uniqKey="Rajput A" first="Alex" last="Rajput">Alex Rajput</name><affiliation wicri:level="1"><country xml:lang="fr">Canada</country><wicri:regionArea>Division of Neurology, University of Saskatchewan, Saskatoon, Saskatchewan</wicri:regionArea><wicri:noRegion>Saskatchewan</wicri:noRegion></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 wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Mayo Clinic College of Medicine, Jacksonville, Florida</wicri:regionArea><placeName><region type="state">Floride</region></placeName></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 wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Mayo Clinic College of Medicine, Jacksonville, Florida</wicri:regionArea><placeName><region type="state">Floride</region></placeName></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 wicri:level="4"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, College of Physicians and Surgeons, Columbia University, New York</wicri:regionArea><placeName><region type="state">État de New York</region><settlement type="city">New York</settlement></placeName><orgName type="university">Université Columbia</orgName></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 wicri:level="4"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pathology, College of Physicians and Surgeons, Columbia University, New York</wicri:regionArea><placeName><region type="state">État de New York</region><settlement type="city">New York</settlement></placeName><orgName type="university">Université Columbia</orgName></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 wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida</wicri:regionArea><placeName><region type="state">Floride</region></placeName></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia</wicri:regionArea><wicri:noRegion>British Columbia</wicri:noRegion></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 wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Emory University, Atlanta, Georgia</wicri:regionArea><placeName><region type="state">Géorgie (États-Unis)</region></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="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><affiliations><list><country><li>Canada</li><li>États-Unis</li></country><region><li>Floride</li><li>Géorgie (États-Unis)</li><li>État de New York</li></region><settlement><li>New York</li></settlement><orgName><li>Université Columbia</li></orgName></list><tree><country name="États-Unis"><region name="Floride"><name sortKey="Ross, Owen A" sort="Ross, Owen A" uniqKey="Ross O" first="Owen A." last="Ross">Owen A. Ross</name></region><name sortKey="Clark, Lorraine N" sort="Clark, Lorraine N" uniqKey="Clark L" first="Lorraine N." last="Clark">Lorraine N. Clark</name><name sortKey="Conneely, Karen N" sort="Conneely, Karen N" uniqKey="Conneely K" first="Karen N." last="Conneely">Karen N. Conneely</name><name sortKey="Farrer, Matthew J" sort="Farrer, Matthew J" uniqKey="Farrer M" first="Matthew J." last="Farrer">Matthew J. Farrer</name><name sortKey="Louis, Elan D" sort="Louis, Elan D" uniqKey="Louis E" first="Elan D." last="Louis">Elan D. Louis</name><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><name sortKey="Testa, Claudia M" sort="Testa, Claudia M" uniqKey="Testa C" first="Claudia M." last="Testa">Claudia M. Testa</name><name sortKey="Uitti, Ryan J" sort="Uitti, Ryan J" uniqKey="Uitti R" first="Ryan J." last="Uitti">Ryan J. Uitti</name><name sortKey="Vilarino Uell, Carles" sort="Vilarino Uell, Carles" uniqKey="Vilarino Uell C" first="Carles" last="Vilarino-Guell">Carles Vilarino-Guell</name><name sortKey="Wang, Tao" sort="Wang, Tao" uniqKey="Wang T" first="Tao" last="Wang">Tao Wang</name><name sortKey="Wszolek, Zbigniew K" sort="Wszolek, Zbigniew K" uniqKey="Wszolek Z" first="Zbigniew K." last="Wszolek">Zbigniew K. Wszolek</name></country><country name="Canada"><noRegion><name sortKey="Vilarino Uell, Carles" sort="Vilarino Uell, Carles" uniqKey="Vilarino Uell C" first="Carles" last="Vilarino-Guell">Carles Vilarino-Guell</name></noRegion><name sortKey="Farrer, Matthew J" sort="Farrer, Matthew J" uniqKey="Farrer M" first="Matthew J." last="Farrer">Matthew J. Farrer</name><name sortKey="Rajput, Alex" sort="Rajput, Alex" uniqKey="Rajput A" first="Alex" last="Rajput">Alex Rajput</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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