LINGO1 gene analysis in Parkinson's disease phenotypes
Identifieur interne : 001598 ( Main/Exploration ); précédent : 001597; suivant : 001599LINGO1 gene analysis in Parkinson's disease phenotypes
Auteurs : Oswaldo Lorenzo-Betancor [Espagne] ; Lluís Samaranch [Espagne] ; Elena García-Martín [Espagne] ; Sebastián Cervantes [Espagne] ; José A. G. Agúndez [Espagne] ; Félix J. Jiménez-Jiménez [Espagne] ; Hortensia Alonso-Navarro [Espagne] ; Antonio Luengo [Espagne] ; Francisco Coria [Espagne] ; Elena Lorenzo [Espagne] ; Jaione Irigoyen [Espagne] ; Pau Pastor [Espagne]Source :
- Movement Disorders [ 0885-3185 ] ; 2011-03.
Descripteurs français
- Wicri :
- geographic : Espagne.
English descriptors
- KwdEn :
- Adolescent, Adult, Aged, Aged, 80 and over, Female, Gene Frequency, Genetic Predisposition to Disease, Genome-Wide Association Study, Genotype, Humans, LINGO1, Linkage Disequilibrium, Male, Membrane Proteins (genetics), Middle Aged, Nerve Tissue Proteins (genetics), Parkinson Disease (genetics), Parkinson's disease, Phenotype, Polymorphism, Single Nucleotide (genetics), Spain, Young Adult, association study, essential tremor, genetics.
- MESH :
- chemical , genetics : Membrane Proteins, Nerve Tissue Proteins.
- geographic : Spain.
- genetics : Parkinson Disease, Polymorphism, Single Nucleotide.
- Adolescent, Adult, Aged, Aged, 80 and over, Female, Gene Frequency, Genetic Predisposition to Disease, Genome-Wide Association Study, Genotype, Humans, Linkage Disequilibrium, Male, Middle Aged, Phenotype, Young Adult.
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. © 2010 Movement Disorder Society
Url:
DOI: 10.1002/mds.23452
Affiliations:
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G." last="Agúndez">José A. G. Agúndez</name><affiliation wicri:level="1"><country xml:lang="fr">Espagne</country><wicri:regionArea>RIRAAF/RETICS, Redes Temáticas de Investigación Cooperativa en Salud, Instituto de Salud Carlos III</wicri:regionArea><wicri:noRegion>Instituto de Salud Carlos III</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Espagne</country><wicri:regionArea>Department of Pharmacology, Medical School, University of Extremadura, Badajoz</wicri:regionArea><wicri:noRegion>Badajoz</wicri:noRegion></affiliation></author><author><name sortKey="Jimenez Imenez, Felix J" sort="Jimenez Imenez, Felix J" uniqKey="Jimenez Imenez F" first="Félix J." last="Jiménez-Jiménez">Félix J. Jiménez-Jiménez</name><affiliation wicri:level="3"><country xml:lang="fr">Espagne</country><wicri:regionArea>Department of Medicine‐Neurology, Hospital Príncipe de Asturias, Universidad de Alcalá, Madrid</wicri:regionArea><placeName><settlement type="city">Madrid</settlement><region nuts="2" type="region">Communauté de Madrid</region></placeName></affiliation><affiliation wicri:level="3"><country xml:lang="fr">Espagne</country><wicri:regionArea>Department of Neurology, Hospital del Sureste, Arganda del Rey, Madrid</wicri:regionArea><placeName><settlement type="city">Madrid</settlement><region nuts="2" type="region">Communauté de Madrid</region></placeName></affiliation></author><author><name sortKey="Alonso Avarro, Hortensia" sort="Alonso Avarro, Hortensia" uniqKey="Alonso Avarro H" first="Hortensia" last="Alonso-Navarro">Hortensia Alonso-Navarro</name><affiliation wicri:level="1"><country xml:lang="fr">Espagne</country><wicri:regionArea>Department of Neurology, Hospital La Mancha‐Centro de Alcázar de San Juan, Ciudad Real</wicri:regionArea><wicri:noRegion>Ciudad Real</wicri:noRegion></affiliation></author><author><name sortKey="Luengo, Antonio" sort="Luengo, Antonio" uniqKey="Luengo A" first="Antonio" last="Luengo">Antonio Luengo</name><affiliation wicri:level="3"><country xml:lang="fr">Espagne</country><wicri:regionArea>Service of Neurology, Hospital Universitario La Princesa, Madrid</wicri:regionArea><placeName><settlement type="city">Madrid</settlement><region nuts="2" type="region">Communauté de Madrid</region></placeName></affiliation></author><author><name sortKey="Coria, Francisco" sort="Coria, Francisco" uniqKey="Coria F" first="Francisco" last="Coria">Francisco Coria</name><affiliation wicri:level="1"><country xml:lang="fr">Espagne</country><wicri:regionArea>Clinic for Nervous System Disorders and Service of Neurology, Hospital Universitario Son Dureta, Palma de Mallorca</wicri:regionArea><wicri:noRegion>Palma de Mallorca</wicri:noRegion></affiliation></author><author><name sortKey="Lorenzo, Elena" sort="Lorenzo, Elena" uniqKey="Lorenzo E" first="Elena" last="Lorenzo">Elena Lorenzo</name><affiliation wicri:level="1"><country xml:lang="fr">Espagne</country><wicri:regionArea>Division of Neurosciences, Neurogenetics Laboratory, Center for Applied Medical Research, University of Navarra, Pamplona</wicri:regionArea><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"><country xml:lang="fr">Espagne</country><wicri:regionArea>Department of Neurology, Clínica Universidad de Navarra, University of Navarra School of Medicine, Pamplona</wicri:regionArea><wicri:noRegion>Pamplona</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Espagne</country><wicri:regionArea>CIBERNED, Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas, Instituto de Salud Carlos III</wicri:regionArea><wicri:noRegion>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"><country xml:lang="fr">Espagne</country><wicri:regionArea>Division of Neurosciences, Neurogenetics Laboratory, Center for Applied Medical Research, University of Navarra, Pamplona</wicri:regionArea><wicri:noRegion>Pamplona</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Espagne</country><wicri:regionArea>Department of Neurology, Clínica Universidad de Navarra, University of Navarra School of Medicine, Pamplona</wicri:regionArea><wicri:noRegion>Pamplona</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Espagne</country><wicri:regionArea>CIBERNED, Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas, Instituto de Salud Carlos III</wicri:regionArea><wicri:noRegion>Instituto de Salud Carlos III</wicri:noRegion></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="2011-03">2011-03</date><biblScope unit="vol">26</biblScope><biblScope unit="issue">4</biblScope><biblScope unit="page" from="722">722</biblScope><biblScope unit="page" to="727">727</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">FBAFAEB6FA9EEC9AA4EA6751A136E5BFD55B24A0</idno><idno type="DOI">10.1002/mds.23452</idno><idno type="ArticleID">MDS23452</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Aged</term><term>Aged, 80 and over</term><term>Female</term><term>Gene Frequency</term><term>Genetic Predisposition to Disease</term><term>Genome-Wide Association Study</term><term>Genotype</term><term>Humans</term><term>LINGO1</term><term>Linkage Disequilibrium</term><term>Male</term><term>Membrane Proteins (genetics)</term><term>Middle Aged</term><term>Nerve Tissue Proteins (genetics)</term><term>Parkinson Disease (genetics)</term><term>Parkinson's disease</term><term>Phenotype</term><term>Polymorphism, Single Nucleotide (genetics)</term><term>Spain</term><term>Young Adult</term><term>association study</term><term>essential tremor</term><term>genetics</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Membrane Proteins</term><term>Nerve Tissue Proteins</term></keywords><keywords scheme="MESH" type="geographic" xml:lang="en"><term>Spain</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Parkinson Disease</term><term>Polymorphism, Single Nucleotide</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>Gene Frequency</term><term>Genetic Predisposition to Disease</term><term>Genome-Wide Association Study</term><term>Genotype</term><term>Humans</term><term>Linkage Disequilibrium</term><term>Male</term><term>Middle Aged</term><term>Phenotype</term><term>Young Adult</term></keywords><keywords scheme="Wicri" type="geographic" xml:lang="fr"><term>Espagne</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></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 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. © 2010 Movement Disorder Society</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 Etancor, Oswaldo" sort="Lorenzo Etancor, Oswaldo" uniqKey="Lorenzo Etancor 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="José A. G." last="Agúndez">José A. G. Agúndez</name><name sortKey="Agundez, Jose A G" sort="Agundez, Jose A G" uniqKey="Agundez J" first="José A. G." last="Agúndez">José A. G. Agúndez</name><name sortKey="Alonso Avarro, Hortensia" sort="Alonso Avarro, Hortensia" uniqKey="Alonso Avarro H" first="Hortensia" last="Alonso-Navarro">Hortensia Alonso-Navarro</name><name sortKey="Cervantes, Sebastian" sort="Cervantes, Sebastian" uniqKey="Cervantes S" first="Sebastián" last="Cervantes">Sebastián Cervantes</name><name sortKey="Cervantes, Sebastian" sort="Cervantes, Sebastian" uniqKey="Cervantes S" first="Sebastián" last="Cervantes">Sebastián Cervantes</name><name sortKey="Coria, Francisco" sort="Coria, Francisco" uniqKey="Coria F" first="Francisco" last="Coria">Francisco Coria</name><name sortKey="Garcia Artin, Elena" sort="Garcia Artin, Elena" uniqKey="Garcia Artin E" first="Elena" last="García-Martín">Elena García-Martín</name><name sortKey="Garcia Artin, Elena" sort="Garcia Artin, Elena" uniqKey="Garcia Artin E" first="Elena" last="García-Martín">Elena García-Martín</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 Imenez, Felix J" sort="Jimenez Imenez, Felix J" uniqKey="Jimenez Imenez F" first="Félix J." last="Jiménez-Jiménez">Félix J. Jiménez-Jiménez</name><name sortKey="Jimenez Imenez, Felix J" sort="Jimenez Imenez, Felix J" uniqKey="Jimenez Imenez F" first="Félix J." last="Jiménez-Jiménez">Félix J. Jiménez-Jiménez</name><name sortKey="Lorenzo Etancor, Oswaldo" sort="Lorenzo Etancor, Oswaldo" uniqKey="Lorenzo Etancor 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>Pour manipuler ce document sous Unix (Dilib)
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