ParkinsonCanadaV1, Pmc, Checkpoint, bibRecord, 000949

Genetic variants of α-synuclein are not associated with essential tremor

Identifieur interne : 000949 ( Pmc/Checkpoint ); précédent : 000948; suivant : 000950

Genetic 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.

RBID : PMC:3677575

Abstract

Background

Given the overlap between Parkinson 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 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 SNCA locus. Individual logistic regression analyses against essential tremor diagnosis and then combined using meta-analysis was run for each variant.

Results

Our results do not show a significant association between variants in the SNCA locus and risk of essential tremor, while the established association of SNCA variants with Parkinson disease risk was observed.

Conclusions

While 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.

Url:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3677575

DOI: 10.1002/mds.23909
PubMed: 22025277
PubMed Central: 3677575

Affiliations:

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<country xml:lang="fr">Canada</country>
<wicri:regionArea>Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia</wicri:regionArea>
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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>
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</title-group>
<contrib-group><contrib contrib-type="author"><name><surname>Ross</surname>
<given-names>Owen A.</given-names>
</name>
<degrees>PhD</degrees>
<xref ref-type="aff" rid="A1">1</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Conneely</surname>
<given-names>Karen N.</given-names>
</name>
<degrees>PhD</degrees>
<xref ref-type="aff" rid="A2">2</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Wang</surname>
<given-names>Tao</given-names>
</name>
<degrees>MS</degrees>
<xref ref-type="aff" rid="A2">2</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Vilarino-Guell</surname>
<given-names>Carles</given-names>
</name>
<degrees>PhD</degrees>
<xref ref-type="aff" rid="A1">1</xref>
<xref ref-type="aff" rid="A3">3</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Soto-Ortolaza</surname>
<given-names>Alexandra I.</given-names>
</name>
<degrees>BSc</degrees>
<xref ref-type="aff" rid="A1">1</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Rajput</surname>
<given-names>Alex</given-names>
</name>
<degrees>MD</degrees>
<xref ref-type="aff" rid="A4">4</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Wszolek</surname>
<given-names>Zbigniew K.</given-names>
</name>
<degrees>MD</degrees>
<xref ref-type="aff" rid="A5">5</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Uitti</surname>
<given-names>Ryan J.</given-names>
</name>
<degrees>MD</degrees>
<xref ref-type="aff" rid="A5">5</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Louis</surname>
<given-names>Elan D.</given-names>
</name>
<degrees>MD</degrees>
<xref ref-type="aff" rid="A6">6</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Clark</surname>
<given-names>Lorraine N.</given-names>
</name>
<degrees>PhD</degrees>
<xref ref-type="aff" rid="A7">7</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Farrer</surname>
<given-names>Matthew J.</given-names>
</name>
<degrees>PhD</degrees>
<xref ref-type="aff" rid="A1">1</xref>
<xref ref-type="aff" rid="A3">3</xref>
</contrib>
<contrib contrib-type="author"><name><surname>Testa</surname>
<given-names>Claudia M.</given-names>
</name>
<degrees>MD, PhD</degrees>
<xref ref-type="aff" rid="A8">8</xref>
<xref ref-type="corresp" rid="CR1">*</xref>
</contrib>
</contrib-group>
<aff id="A1"><label>1</label>
Department of Neuroscience, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</aff>
<aff id="A2"><label>2</label>
Department of Human Genetics, Emory University, Atlanta, Georgia, USA</aff>
<aff id="A3"><label>3</label>
Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada</aff>
<aff id="A4"><label>4</label>
Division of Neurology, University of Saskatchewan, Saskatoon, Saskatchewan, Canada</aff>
<aff id="A5"><label>5</label>
Department of Neurology, Mayo Clinic College of Medicine, Jacksonville, Florida, USA</aff>
<aff id="A6"><label>6</label>
Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, USA</aff>
<aff id="A7"><label>7</label>
Department of Pathology, College of Physicians and Surgeons, Columbia University, New York, USA</aff>
<aff id="A8"><label>8</label>
Department of Neurology, Emory University, Atlanta, Georgia, USA</aff>
<author-notes><corresp id="CR1"><label>*</label>
Corresponding author: 1841 Clifton Road, NE, 3<sup>rd</sup>
 Floor, Atlanta, GA 30329 Phone: +1 404 728 6909; Fax: +1 404 728 6685 <email>ctesta@emory.edu</email>
</corresp>
</author-notes>
<pub-date pub-type="nihms-submitted"><day>11</day>
<month>4</month>
<year>2013</year>
</pub-date>
<pub-date pub-type="epub"><day>24</day>
<month>10</month>
<year>2011</year>
</pub-date>
<pub-date pub-type="ppub"><month>12</month>
<year>2011</year>
</pub-date>
<pub-date pub-type="pmc-release"><day>10</day>
<month>6</month>
<year>2013</year>
</pub-date>
<volume>26</volume>
<issue>14</issue>
<fpage>2552</fpage>
<lpage>2556</lpage>
<abstract><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>
</abstract>
<kwd-group><kwd>tremor</kwd>
<kwd>essential tremor</kwd>
<kwd>association studies in genetics</kwd>
<kwd>Parkinson’s disease</kwd>
<kwd>parkinsonism</kwd>
<kwd>synuclein</kwd>
</kwd-group>
<funding-group><award-group><funding-source country="United States">National Institute on Aging : NIA</funding-source>
<award-id>P50 AG025688 || AG</award-id>
</award-group>
</funding-group>
</article-meta>
</front>
</pmc>
<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 Ortolaza, Alexandra I" sort="Soto Ortolaza, Alexandra I" uniqKey="Soto Ortolaza 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 Guell, Carles" sort="Vilarino Guell, Carles" uniqKey="Vilarino Guell 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 Guell, Carles" sort="Vilarino Guell, Carles" uniqKey="Vilarino Guell 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>

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	La maladie de Parkinson au Canada (serveur d'exploration)
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Genetic variants of α-synuclein are not associated with essential tremor

Genetic variants of α-synuclein are not associated with essential tremor

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