Movement Disorders (revue)

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LING01 Gene Analysis in Parkinson's Disease Phenotypes

Identifieur interne : 001880 ( Main/Exploration ); précédent : 001879; suivant : 001881

LING01 Gene Analysis in Parkinson's Disease Phenotypes

Auteurs : Oswaldo Lorenzo-Betancor [Espagne] ; Lluís Samaranch [Espagne] ; Elena Garcia-Martin [Espagne] ; Sebastian Cervantes [Espagne] ; Jose A. G. Agundez [Espagne] ; Félix J. Jimenez-Jimenez [Espagne] ; Hortensia Alonso-Navarro [Espagne] ; Antonio Luengo [Espagne] ; Francisco Coria [Espagne] ; Elena Lorenzo [Espagne] ; Jaione Irigoyen [Espagne] ; Pau Pastor [Espagne]

Source :

RBID : Pascal:11-0228387

Descripteurs français

English descriptors

Abstract

Background: Parkinson's disease (PD) and essential tremor (ET) may share some etiopathogenic factors. A genome-wide association study has shown that LINGO1 gene variants are associated with increased risk of ET. We hypothesized that LINGO1 variants could increase susceptibility to PD. Methods: A large series of PD subjects and healthy controls were genotyped for rs9652490 and rs11856808 LINGO1 single nucleotide polymorphisms (SNPs). Results: We found an increased frequency of the rs11856808T/T genotype in PD compared with controls (odds ratio = 1.46; corrected P value = 0.02). A recessive genetic model was the best fit for rs11856808 influence on PD (recessive gene action test: corrected P value = 0.01). Stratification analysis showed that rs11856808T/T genotype frequency was higher in the tremor-dominant PD and the classical PD (C-PD) subgroups (recessive gene action test for the C-PD subgroup: corrected P value = 0.004). Discussion: Our results indicate that LINGO1 variants could increase risk of PD, specifically those presenting the non-rigid-akinetic phenotypes, which suggests that LINGO1 may have a role in the etiology of tremor in PD at least in the Spanish population.


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Le document en format XML

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<title xml:lang="en" level="a">LING01 Gene Analysis in Parkinson's Disease Phenotypes</title>
<author>
<name sortKey="Lorenzo Betancor, Oswaldo" sort="Lorenzo Betancor, Oswaldo" uniqKey="Lorenzo Betancor O" first="Oswaldo" last="Lorenzo-Betancor">Oswaldo Lorenzo-Betancor</name>
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<s1>Department of Neurology, Clinica Universidad de Navarra, University of Navarra School of Medicine</s1>
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<name sortKey="Alonso Navarro, Hortensia" sort="Alonso Navarro, Hortensia" uniqKey="Alonso Navarro H" first="Hortensia" last="Alonso-Navarro">Hortensia Alonso-Navarro</name>
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<name sortKey="Lorenzo, Elena" sort="Lorenzo, Elena" uniqKey="Lorenzo E" first="Elena" last="Lorenzo">Elena Lorenzo</name>
<affiliation wicri:level="1">
<inist:fA14 i1="01">
<s1>Division of Neurosciences, Neurogenetics Laboratory, Center for Applied Medical Research, University of Navarra</s1>
<s2>Pamplona</s2>
<s3>ESP</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>10 aut.</sZ>
<sZ>12 aut.</sZ>
</inist:fA14>
<country>Espagne</country>
<wicri:noRegion>Pamplona</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Irigoyen, Jaione" sort="Irigoyen, Jaione" uniqKey="Irigoyen J" first="Jaione" last="Irigoyen">Jaione Irigoyen</name>
<affiliation wicri:level="1">
<inist:fA14 i1="02">
<s1>Department of Neurology, Clinica Universidad de Navarra, University of Navarra School of Medicine</s1>
<s2>Pamplona</s2>
<s3>ESP</s3>
<sZ>1 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>11 aut.</sZ>
<sZ>12 aut.</sZ>
</inist:fA14>
<country>Espagne</country>
<wicri:noRegion>Pamplona</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1">
<inist:fA14 i1="11">
<s1>CIBERNED, Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas, Instituto de Salud Carlos III</s1>
<s3>ESP</s3>
<sZ>11 aut.</sZ>
<sZ>12 aut.</sZ>
</inist:fA14>
<country>Espagne</country>
<wicri:noRegion>CIBERNED, Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas, Instituto de Salud Carlos III</wicri:noRegion>
</affiliation>
</author>
<author>
<name sortKey="Pastor, Pau" sort="Pastor, Pau" uniqKey="Pastor P" first="Pau" last="Pastor">Pau Pastor</name>
<affiliation wicri:level="1">
<inist:fA14 i1="01">
<s1>Division of Neurosciences, Neurogenetics Laboratory, Center for Applied Medical Research, University of Navarra</s1>
<s2>Pamplona</s2>
<s3>ESP</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>10 aut.</sZ>
<sZ>12 aut.</sZ>
</inist:fA14>
<country>Espagne</country>
<wicri:noRegion>Pamplona</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1">
<inist:fA14 i1="02">
<s1>Department of Neurology, Clinica Universidad de Navarra, University of Navarra School of Medicine</s1>
<s2>Pamplona</s2>
<s3>ESP</s3>
<sZ>1 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>11 aut.</sZ>
<sZ>12 aut.</sZ>
</inist:fA14>
<country>Espagne</country>
<wicri:noRegion>Pamplona</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1">
<inist:fA14 i1="11">
<s1>CIBERNED, Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas, Instituto de Salud Carlos III</s1>
<s3>ESP</s3>
<sZ>11 aut.</sZ>
<sZ>12 aut.</sZ>
</inist:fA14>
<country>Espagne</country>
<wicri:noRegion>CIBERNED, Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas, Instituto de Salud Carlos III</wicri:noRegion>
</affiliation>
</author>
</analytic>
<series>
<title level="j" type="main">Movement disorders</title>
<title level="j" type="abbreviated">Mov. disord.</title>
<idno type="ISSN">0885-3185</idno>
<imprint>
<date when="2011">2011</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
<seriesStmt>
<title level="j" type="main">Movement disorders</title>
<title level="j" type="abbreviated">Mov. disord.</title>
<idno type="ISSN">0885-3185</idno>
</seriesStmt>
</fileDesc>
<profileDesc>
<textClass>
<keywords scheme="KwdEn" xml:lang="en">
<term>Nervous system diseases</term>
<term>Parkinson disease</term>
<term>Phenotype</term>
<term>Tremor</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr">
<term>Maladie de Parkinson</term>
<term>Tremblement</term>
<term>Pathologie du système nerveux</term>
<term>Phénotype</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front>
<div type="abstract" xml:lang="en">Background: Parkinson's disease (PD) and essential tremor (ET) may share some etiopathogenic factors. A genome-wide association study has shown that LINGO1 gene variants are associated with increased risk of ET. We hypothesized that LINGO1 variants could increase susceptibility to PD. Methods: A large series of PD subjects and healthy controls were genotyped for rs9652490 and rs11856808 LINGO1 single nucleotide polymorphisms (SNPs). Results: We found an increased frequency of the rs11856808
<sup>T/T</sup>
genotype in PD compared with controls (odds ratio = 1.46; corrected P value = 0.02). A recessive genetic model was the best fit for rs11856808 influence on PD (recessive gene action test: corrected P value = 0.01). Stratification analysis showed that rs11856808
<sup>T/T</sup>
genotype frequency was higher in the tremor-dominant PD and the classical PD (C-PD) subgroups (recessive gene action test for the C-PD subgroup: corrected P value = 0.004). Discussion: Our results indicate that LINGO1 variants could increase risk of PD, specifically those presenting the non-rigid-akinetic phenotypes, which suggests that LINGO1 may have a role in the etiology of tremor in PD at least in the Spanish population.</div>
</front>
</TEI>
<affiliations>
<list>
<country>
<li>Espagne</li>
</country>
<region>
<li>Communauté de Madrid</li>
</region>
<settlement>
<li>Madrid</li>
</settlement>
</list>
<tree>
<country name="Espagne">
<noRegion>
<name sortKey="Lorenzo Betancor, Oswaldo" sort="Lorenzo Betancor, Oswaldo" uniqKey="Lorenzo Betancor O" first="Oswaldo" last="Lorenzo-Betancor">Oswaldo Lorenzo-Betancor</name>
</noRegion>
<name sortKey="Agundez, Jose A G" sort="Agundez, Jose A G" uniqKey="Agundez J" first="Jose A. G." last="Agundez">Jose A. G. Agundez</name>
<name sortKey="Agundez, Jose A G" sort="Agundez, Jose A G" uniqKey="Agundez J" first="Jose A. G." last="Agundez">Jose A. G. Agundez</name>
<name sortKey="Alonso Navarro, Hortensia" sort="Alonso Navarro, Hortensia" uniqKey="Alonso Navarro H" first="Hortensia" last="Alonso-Navarro">Hortensia Alonso-Navarro</name>
<name sortKey="Cervantes, Sebastian" sort="Cervantes, Sebastian" uniqKey="Cervantes S" first="Sebastian" last="Cervantes">Sebastian Cervantes</name>
<name sortKey="Cervantes, Sebastian" sort="Cervantes, Sebastian" uniqKey="Cervantes S" first="Sebastian" last="Cervantes">Sebastian Cervantes</name>
<name sortKey="Coria, Francisco" sort="Coria, Francisco" uniqKey="Coria F" first="Francisco" last="Coria">Francisco Coria</name>
<name sortKey="Garcia Martin, Elena" sort="Garcia Martin, Elena" uniqKey="Garcia Martin E" first="Elena" last="Garcia-Martin">Elena Garcia-Martin</name>
<name sortKey="Garcia Martin, Elena" sort="Garcia Martin, Elena" uniqKey="Garcia Martin E" first="Elena" last="Garcia-Martin">Elena Garcia-Martin</name>
<name sortKey="Irigoyen, Jaione" sort="Irigoyen, Jaione" uniqKey="Irigoyen J" first="Jaione" last="Irigoyen">Jaione Irigoyen</name>
<name sortKey="Irigoyen, Jaione" sort="Irigoyen, Jaione" uniqKey="Irigoyen J" first="Jaione" last="Irigoyen">Jaione Irigoyen</name>
<name sortKey="Jimenez Jimenez, Felix J" sort="Jimenez Jimenez, Felix J" uniqKey="Jimenez Jimenez F" first="Félix J." last="Jimenez-Jimenez">Félix J. Jimenez-Jimenez</name>
<name sortKey="Jimenez Jimenez, Felix J" sort="Jimenez Jimenez, Felix J" uniqKey="Jimenez Jimenez F" first="Félix J." last="Jimenez-Jimenez">Félix J. Jimenez-Jimenez</name>
<name sortKey="Lorenzo Betancor, Oswaldo" sort="Lorenzo Betancor, Oswaldo" uniqKey="Lorenzo Betancor O" first="Oswaldo" last="Lorenzo-Betancor">Oswaldo Lorenzo-Betancor</name>
<name sortKey="Lorenzo, Elena" sort="Lorenzo, Elena" uniqKey="Lorenzo E" first="Elena" last="Lorenzo">Elena Lorenzo</name>
<name sortKey="Luengo, Antonio" sort="Luengo, Antonio" uniqKey="Luengo A" first="Antonio" last="Luengo">Antonio Luengo</name>
<name sortKey="Pastor, Pau" sort="Pastor, Pau" uniqKey="Pastor P" first="Pau" last="Pastor">Pau Pastor</name>
<name sortKey="Pastor, Pau" sort="Pastor, Pau" uniqKey="Pastor P" first="Pau" last="Pastor">Pau Pastor</name>
<name sortKey="Pastor, Pau" sort="Pastor, Pau" uniqKey="Pastor P" first="Pau" last="Pastor">Pau Pastor</name>
<name sortKey="Samaranch, Lluis" sort="Samaranch, Lluis" uniqKey="Samaranch L" first="Lluís" last="Samaranch">Lluís Samaranch</name>
</country>
</tree>
</affiliations>
</record>

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