La maladie de Parkinson au Canada (serveur d'exploration)

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SLC1A2 rs3764087 does not associate with essential tremor

Identifieur interne : 000812 ( Pmc/Curation ); précédent : 000811; suivant : 000813

SLC1A2 rs3764087 does not associate with essential tremor

Auteurs : Jay P. Ross [Canada] ; Sruti Rayaprolu [États-Unis] ; Cecily Q. Bernales [Canada] ; Alexandra I. Soto-Ortolaza [États-Unis] ; Jay Van Gerpen [États-Unis] ; Ryan J. Uitti [États-Unis] ; Zbigniew K. Wszolek [États-Unis] ; Alex Rajput [Canada] ; Ali H. Rajput [Canada] ; Michele L. Rajput [Canada] ; Owen A. Ross [États-Unis] ; Carles Vilari O-Güell [Canada]

Source :

RBID : PMC:4388040

Abstract

A recent genome-wide association study of essential tremor (ET) patients from Germany has nominated SLC1A2 rs3764087 as a novel risk factor for disease. This association was independently replicated in the Chinese population, albeit with an opposite direction of effect. To further define the role of SLC1A2 in ET we genotyped rs3764087 in a North American series consisting of 1,356 ET patients and controls. Statistical analysis did not identify significant differences in genotype or allele frequencies between healthy controls and ET patients (p>0.36). These findings therefore do not support a role for SLC1A2 rs3764087 in the susceptibility to ET in the North American population. Further studies in ethnically distinct populations of ET patients are necessary to understand whether genetic variability in SLC1A2 affects disease risk for ET.


Url:
DOI: 10.1016/j.neurobiolaging.2013.09.022
PubMed: 24139280
PubMed Central: 4388040

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PMC:4388040

Le document en format XML

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<p id="P2">A recent genome-wide association study of essential tremor (ET) patients from Germany has nominated
<italic>SLC1A2</italic>
rs3764087 as a novel risk factor for disease. This association was independently replicated in the Chinese population, albeit with an opposite direction of effect. To further define the role of
<italic>SLC1A2</italic>
in ET we genotyped rs3764087 in a North American series consisting of 1,356 ET patients and controls. Statistical analysis did not identify significant differences in genotype or allele frequencies between healthy controls and ET patients (p>0.36). These findings therefore do not support a role for
<italic>SLC1A2</italic>
rs3764087 in the susceptibility to ET in the North American population. Further studies in ethnically distinct populations of ET patients are necessary to understand whether genetic variability in
<italic>SLC1A2</italic>
affects disease risk for ET.</p>
</div>
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<article-title>
<italic>SLC1A2</italic>
rs3764087 does not associate with essential tremor</article-title>
</title-group>
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<contrib contrib-type="author">
<name>
<surname>Ross</surname>
<given-names>Jay P</given-names>
</name>
<degrees>BSc</degrees>
<email>jross@can.ubc.ca</email>
<xref ref-type="aff" rid="A1">1</xref>
<xref ref-type="author-notes" rid="FN1"></xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Rayaprolu</surname>
<given-names>Sruti</given-names>
</name>
<degrees>BSc</degrees>
<email>rayaprolu.sruti@mayo.edu</email>
<xref ref-type="aff" rid="A2">2</xref>
<xref ref-type="author-notes" rid="FN1"></xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Bernales</surname>
<given-names>Cecily Q</given-names>
</name>
<degrees>BSc</degrees>
<email>cbernales@can.ubc.ca</email>
<xref ref-type="aff" rid="A1">1</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Soto-Ortolaza</surname>
<given-names>Alexandra I</given-names>
</name>
<degrees>BSc</degrees>
<email>Ortolaza.alexandra@mayo.edu</email>
<xref ref-type="aff" rid="A2">2</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>van Gerpen</surname>
<given-names>Jay</given-names>
</name>
<degrees>MD</degrees>
<email>VanGerpen.Jay@mayo.edu</email>
<xref ref-type="aff" rid="A3">3</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Uitti</surname>
<given-names>Ryan J</given-names>
</name>
<degrees>MD</degrees>
<email>Uitti.Ryan@mayo.edu</email>
<xref ref-type="aff" rid="A3">3</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Wszolek</surname>
<given-names>Zbigniew K</given-names>
</name>
<degrees>MD</degrees>
<email>Wszolek.Zbigniew@mayo.edu</email>
<xref ref-type="aff" rid="A3">3</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Rajput</surname>
<given-names>Alex</given-names>
</name>
<degrees>MD</degrees>
<email>ahr128@campus.usask.ca</email>
<xref ref-type="aff" rid="A4">4</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Rajput</surname>
<given-names>Ali H</given-names>
</name>
<degrees>MD</degrees>
<email>ali.rajput@saskatoonhealthregion.ca</email>
<xref ref-type="aff" rid="A4">4</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Rajput</surname>
<given-names>Michele L</given-names>
</name>
<degrees>PhD</degrees>
<email>rajput@sasktel.net</email>
<xref ref-type="aff" rid="A4">4</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Ross</surname>
<given-names>Owen A</given-names>
</name>
<degrees>PhD</degrees>
<email>Ross.Owen@mayo.edu</email>
<xref ref-type="aff" rid="A2">2</xref>
</contrib>
<contrib contrib-type="author">
<name>
<surname>Vilariño-Güell</surname>
<given-names>Carles</given-names>
</name>
<degrees>PhD</degrees>
<email>carles@can.ubc.ca</email>
<xref ref-type="aff" rid="A1">1</xref>
<xref ref-type="corresp" rid="cor1">*</xref>
</contrib>
</contrib-group>
<aff id="A1">
<label>1</label>
Department of Medical Genetics, University of British Columbia, Vancouver BC V6T 2B5, Canada</aff>
<aff id="A2">
<label>2</label>
Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA</aff>
<aff id="A3">
<label>3</label>
Department of Neurology, Mayo Clinic, Jacksonville, FL 32224, USA</aff>
<aff id="A4">
<label>4</label>
Division of Neurology, University of Saskatchewan and Saskatoon Health Region, Saskatoon SK S7N 0W8, Canada</aff>
<author-notes>
<corresp id="cor1">
<label>*</label>
<bold>Corresponding author:</bold>
Carles Vilariño-Güell, Ph.D., F163-2211 Wesbrook Mall, University of British Columbia, Vancouver, BC V6T 2B5, Canada. Tel: 604.827.1303; Fax: 604.822.7299,
<email>carles@can.ubc.ca</email>
</corresp>
<fn id="FN1" fn-type="equal">
<label></label>
<p id="P1">These authors contributed equally</p>
</fn>
</author-notes>
<pub-date pub-type="nihms-submitted">
<day>23</day>
<month>5</month>
<year>2014</year>
</pub-date>
<pub-date pub-type="epub">
<day>16</day>
<month>10</month>
<year>2013</year>
</pub-date>
<pub-date pub-type="ppub">
<month>4</month>
<year>2014</year>
</pub-date>
<pub-date pub-type="pmc-release">
<day>07</day>
<month>4</month>
<year>2015</year>
</pub-date>
<volume>35</volume>
<issue>4</issue>
<fpage>935.e9</fpage>
<lpage>935.10</lpage>
<pmc-comment>elocation-id from pubmed: 10.1016/j.neurobiolaging.2013.09.022</pmc-comment>
<permissions>
<copyright-statement>© 2013 Elsevier Inc. All rights reserved.</copyright-statement>
<copyright-year>2013</copyright-year>
</permissions>
<abstract>
<p id="P2">A recent genome-wide association study of essential tremor (ET) patients from Germany has nominated
<italic>SLC1A2</italic>
rs3764087 as a novel risk factor for disease. This association was independently replicated in the Chinese population, albeit with an opposite direction of effect. To further define the role of
<italic>SLC1A2</italic>
in ET we genotyped rs3764087 in a North American series consisting of 1,356 ET patients and controls. Statistical analysis did not identify significant differences in genotype or allele frequencies between healthy controls and ET patients (p>0.36). These findings therefore do not support a role for
<italic>SLC1A2</italic>
rs3764087 in the susceptibility to ET in the North American population. Further studies in ethnically distinct populations of ET patients are necessary to understand whether genetic variability in
<italic>SLC1A2</italic>
affects disease risk for ET.</p>
</abstract>
<kwd-group>
<kwd>Essential tremor</kwd>
<kwd>SLC1A2</kwd>
<kwd>association</kwd>
</kwd-group>
</article-meta>
</front>
</pmc>
</record>

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