Genetic variants of α-synuclein are not associated with essential tremor
Identifieur interne : 003446 ( Ncbi/Checkpoint ); précédent : 003445; suivant : 003447Genetic 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 : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2011.
English descriptors
- KwdEn :
- Adolescent, Adult, Aged, Aged, 80 and over, Essential Tremor (epidemiology), Essential Tremor (genetics), Female, Genetic Predisposition to Disease (epidemiology), Genetic Predisposition to Disease (genetics), Genetic Variation, Humans, Male, Middle Aged, Parkinson Disease (epidemiology), Parkinson Disease (genetics), Risk Factors, Young Adult, alpha-Synuclein.
- MESH :
- chemical : alpha-Synuclein.
- epidemiology : Essential Tremor, Genetic Predisposition to Disease, Parkinson Disease.
- genetics : Essential Tremor, Genetic Predisposition to Disease, Parkinson Disease.
- Adolescent, Adult, Aged, Aged, 80 and over, Female, Genetic Variation, Humans, Male, Middle Aged, Risk Factors, Young Adult.
Abstract
Given the overlap between Parkinson disease and essential tremor, we examined genetic variants in α-synuclein (
Samples from 661 essential tremor subjects and 1,316 control subjects from four participating North American sites were included in this study. Parkinson disease samples (n=427) were compared against controls for two cohorts. Twenty variants were selected for association analysis within the
Our results do not show a significant association between variants in the
While genetic factors are likely to play a large role in essential tremor pathogenesis our results do not support a role for common
Url:
DOI: 10.1002/mds.23909
PubMed: 22025277
PubMed Central: 3677575
Affiliations:
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PMC:3677575Le document en format XML
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<author><name sortKey="Wszolek, Zbigniew K" sort="Wszolek, Zbigniew K" uniqKey="Wszolek Z" first="Zbigniew K." last="Wszolek">Zbigniew K. Wszolek</name>
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<country xml:lang="fr">États-Unis</country>
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<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"><nlm:aff id="A5">Department of Neurology, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Neurology, Mayo Clinic College of Medicine, Jacksonville, Florida</wicri:regionArea>
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</affiliation>
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<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"><nlm:aff id="A6">Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, USA</nlm:aff>
<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>
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<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"><nlm:aff id="A7">Department of Pathology, College of Physicians and Surgeons, Columbia University, New York, USA</nlm:aff>
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<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>
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<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"><nlm:aff id="A1">Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</nlm:aff>
<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"><nlm:aff id="A3">Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada</nlm:aff>
<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"><nlm:aff id="A8">Department of Neurology, Emory University, Atlanta, Georgia, USA</nlm:aff>
<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>
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<series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title>
<idno type="ISSN">0885-3185</idno>
<idno type="eISSN">1531-8257</idno>
<imprint><date when="2011">2011</date>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term>
<term>Adult</term>
<term>Aged</term>
<term>Aged, 80 and over</term>
<term>Essential Tremor (epidemiology)</term>
<term>Essential Tremor (genetics)</term>
<term>Female</term>
<term>Genetic Predisposition to Disease (epidemiology)</term>
<term>Genetic Predisposition to Disease (genetics)</term>
<term>Genetic Variation</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Parkinson Disease (epidemiology)</term>
<term>Parkinson Disease (genetics)</term>
<term>Risk Factors</term>
<term>Young Adult</term>
<term>alpha-Synuclein</term>
</keywords>
<keywords scheme="MESH" type="chemical" xml:lang="en"><term>alpha-Synuclein</term>
</keywords>
<keywords scheme="MESH" qualifier="epidemiology" xml:lang="en"><term>Essential Tremor</term>
<term>Genetic Predisposition to Disease</term>
<term>Parkinson Disease</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Essential Tremor</term>
<term>Genetic Predisposition to Disease</term>
<term>Parkinson Disease</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Adolescent</term>
<term>Adult</term>
<term>Aged</term>
<term>Aged, 80 and over</term>
<term>Female</term>
<term>Genetic Variation</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Risk Factors</term>
<term>Young Adult</term>
</keywords>
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<front><div type="abstract" xml:lang="en"><sec id="S1"><title>Background</title>
<p id="P1">Given the overlap between Parkinson disease and essential tremor, we examined genetic variants in α-synuclein (<italic>SNCA</italic>
) as risk determinants for essential tremor.</p>
</sec>
<sec id="S2"><title>Methods</title>
<p id="P2">Samples from 661 essential tremor subjects and 1,316 control subjects from four participating North American sites were included in this study. Parkinson disease samples (n=427) were compared against controls for two cohorts. Twenty variants were selected for association analysis within the <italic>SNCA</italic>
locus. Individual logistic regression analyses against essential tremor diagnosis and then combined using meta-analysis was run for each variant.</p>
</sec>
<sec id="S3"><title>Results</title>
<p id="P3">Our results do not show a significant association between variants in the <italic>SNCA</italic>
locus and risk of essential tremor, while the established association of <italic>SNCA</italic>
variants with Parkinson disease risk was observed.</p>
</sec>
<sec id="S4"><title>Conclusions</title>
<p id="P4">While genetic factors are likely to play a large role in essential tremor pathogenesis our results do not support a role for common <italic>SNCA</italic>
genetic variants in risk for essential tremor.</p>
</sec>
</div>
</front>
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<name sortKey="Louis, Elan D" sort="Louis, Elan D" uniqKey="Louis E" first="Elan D." last="Louis">Elan D. Louis</name>
<name sortKey="Soto Ortolaza, Alexandra I" sort="Soto Ortolaza, Alexandra I" uniqKey="Soto Ortolaza A" first="Alexandra I." last="Soto-Ortolaza">Alexandra I. Soto-Ortolaza</name>
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</affiliations>
</record>
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