Genetic association study of the P‐type ATPase ATP13A2 in late‐onset Parkinson's disease
Identifieur interne : 002290 ( Main/Exploration ); précédent : 002289; suivant : 002291Genetic association study of the P‐type ATPase ATP13A2 in late‐onset Parkinson's disease
Auteurs : Aleksandar Rakovic [Allemagne] ; Barbara Stiller [Allemagne] ; Ana Djarmati [Allemagne] ; Antonia Flaquer [Allemagne] ; Jan Freudenberg [États-Unis] ; Mohammad-Reza Toliat [Allemagne] ; Michael Linnebank [Allemagne] ; Vladimir Kostic [Serbie] ; Katja Lohmann [Allemagne] ; Sebastian Paus [Allemagne] ; Peter Nürnberg [Allemagne] ; Christian Kubisch [Allemagne] ; Christine Klein [Allemagne] ; Ullrich Wüllner [Allemagne] ; Alfredo Ramirez [Allemagne]Source :
- Movement Disorders [ 0885-3185 ] ; 2009-02-15.
Descripteurs français
- Pascal (Inist)
English descriptors
- KwdEn :
- ATP13A2, Adenosinetriphosphatase, Adult, Age of Onset, Aged, Female, Genotype, Haplotypes, Humans, Male, Middle Aged, Nervous system diseases, Parkinson Disease (genetics), Parkinson disease, Parkinson's disease, Parkinsonism, Polymorphism, Single Nucleotide (genetics), Proton-Translocating ATPases (genetics), association study.
- MESH :
- chemical , genetics : Proton-Translocating ATPases.
- genetics : Parkinson Disease, Polymorphism, Single Nucleotide.
- Adult, Age of Onset, Aged, Female, Genotype, Haplotypes, Humans, Male, Middle Aged.
Abstract
A role of ATP13A2 in early‐onset Parkinsonism (EOP) has been proposed. Conversely, the contribution of this ATPase to late‐onset Parkinson's disease (PD) remains unexplored. We therefore conducted a case–control association study in this age‐of‐onset group with PD. The initial sample was of German origin and consisted of 220 patients with late‐onset PD (mean age of onset 60.1 years) and 232 age‐matched unrelated controls. Five single nucleotide polymorphisms (SNPs) covering ATP13A2 and its common haplotypes were genotyped. The overall association results in this sample were negative. Interestingly, gender stratification gave a positive result for SNP rs11203280 (PUNC = 0.016) in men. This result could not be reproduced in a replication sample of German and Serbian origin composed of 161 patients with late‐onset PD (mean age of onset 51.7 years) and 150 age‐ and ethnic‐matched controls. In conclusion, we found no consistent evidence for an association between ATP13A2 and late‐onset PD. © 2008 Movement Disorder Society
Url:
DOI: 10.1002/mds.22399
Affiliations:
- Allemagne, Serbie, États-Unis
- Californie, District de Cologne, District de Giessen, Hesse (Land), Rhénanie-du-Nord-Westphalie
- Bonn, Marbourg
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Le document en format XML
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type="city">Bonn</settlement></placeName></affiliation></author><author><name sortKey="Kostic, Vladimir" sort="Kostic, Vladimir" uniqKey="Kostic V" first="Vladimir" last="Kostic">Vladimir Kostic</name><affiliation wicri:level="1"><country xml:lang="fr">Serbie</country><wicri:regionArea>Department of Neurology, University of Belgrade, Belgrade</wicri:regionArea><wicri:noRegion>Belgrade</wicri:noRegion></affiliation></author><author><name sortKey="Lohmann, Katja" sort="Lohmann, Katja" uniqKey="Lohmann K" first="Katja" last="Lohmann">Katja Lohmann</name><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, University of Lübeck, Lübeck</wicri:regionArea><wicri:noRegion>Lübeck</wicri:noRegion><wicri:noRegion>Lübeck</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Human Genetics, University of Lübeck, Lübeck</wicri:regionArea><wicri:noRegion>Lübeck</wicri:noRegion><wicri:noRegion>Lübeck</wicri:noRegion></affiliation></author><author><name sortKey="Paus, Sebastian" sort="Paus, Sebastian" uniqKey="Paus S" first="Sebastian" last="Paus">Sebastian Paus</name><affiliation wicri:level="3"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, University of Bonn, Bonn</wicri:regionArea><placeName><region type="land" nuts="1">Rhénanie-du-Nord-Westphalie</region><region type="district" nuts="2">District de Cologne</region><settlement type="city">Bonn</settlement></placeName></affiliation></author><author><name sortKey="Nurnberg, Peter" sort="Nurnberg, Peter" uniqKey="Nurnberg P" first="Peter" last="Nürnberg">Peter Nürnberg</name><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute for Genetics, University of Cologne, Cologne</wicri:regionArea><wicri:noRegion>Cologne</wicri:noRegion><wicri:noRegion>Cologne</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Cologne Center for Genomics, University of Cologne, Cologne</wicri:regionArea><wicri:noRegion>Cologne</wicri:noRegion><wicri:noRegion>Cologne</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Cologne Excellence Cluster on Cellular Stress Responses in Aging‐Associated Diseases (CECEAD), University of Cologne, Cologne</wicri:regionArea><wicri:noRegion>Cologne</wicri:noRegion><wicri:noRegion>Cologne</wicri:noRegion></affiliation></author><author><name sortKey="Kubisch, Christian" sort="Kubisch, Christian" uniqKey="Kubisch C" first="Christian" last="Kubisch">Christian Kubisch</name><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute of Human Genetics, University of Cologne, Cologne</wicri:regionArea><wicri:noRegion>Cologne</wicri:noRegion><wicri:noRegion>Cologne</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute for Genetics, University of Cologne, Cologne</wicri:regionArea><wicri:noRegion>Cologne</wicri:noRegion><wicri:noRegion>Cologne</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Center for Molecular Medicine Cologne, University of Cologne, Cologne</wicri:regionArea><wicri:noRegion>Cologne</wicri:noRegion><wicri:noRegion>Cologne</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Cologne Center for Genomics, University of Cologne, Cologne</wicri:regionArea><wicri:noRegion>Cologne</wicri:noRegion><wicri:noRegion>Cologne</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Cologne Excellence Cluster on Cellular Stress Responses in Aging‐Associated Diseases (CECEAD), University of Cologne, Cologne</wicri:regionArea><wicri:noRegion>Cologne</wicri:noRegion><wicri:noRegion>Cologne</wicri:noRegion></affiliation></author><author><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, University of Lübeck, Lübeck</wicri:regionArea><wicri:noRegion>Lübeck</wicri:noRegion><wicri:noRegion>Lübeck</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Human Genetics, University of Lübeck, Lübeck</wicri:regionArea><wicri:noRegion>Lübeck</wicri:noRegion><wicri:noRegion>Lübeck</wicri:noRegion></affiliation></author><author><name sortKey="Wullner, Ullrich" sort="Wullner, Ullrich" uniqKey="Wullner U" first="Ullrich" last="Wüllner">Ullrich Wüllner</name><affiliation wicri:level="3"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, University of Bonn, Bonn</wicri:regionArea><placeName><region type="land" nuts="1">Rhénanie-du-Nord-Westphalie</region><region type="district" nuts="2">District de Cologne</region><settlement type="city">Bonn</settlement></placeName></affiliation></author><author><name sortKey="Ramirez, Alfredo" sort="Ramirez, Alfredo" uniqKey="Ramirez A" first="Alfredo" last="Ramirez">Alfredo Ramirez</name><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute of Human Genetics, University of Cologne, Cologne</wicri:regionArea><wicri:noRegion>Cologne</wicri:noRegion><wicri:noRegion>Cologne</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute for Genetics, University of Cologne, Cologne</wicri:regionArea><wicri:noRegion>Cologne</wicri:noRegion><wicri:noRegion>Cologne</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Center for Molecular Medicine Cologne, University of Cologne, Cologne</wicri:regionArea><wicri:noRegion>Cologne</wicri:noRegion><wicri:noRegion>Cologne</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="2009-02-15">2009-02-15</date><biblScope unit="vol">24</biblScope><biblScope unit="issue">3</biblScope><biblScope unit="page" from="429">429</biblScope><biblScope unit="page" to="433">433</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">690C93D02A35B3CB35F75C477BA209B3F08265AA</idno><idno type="DOI">10.1002/mds.22399</idno><idno type="ArticleID">MDS22399</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>ATP13A2</term><term>Adenosinetriphosphatase</term><term>Adult</term><term>Age of Onset</term><term>Aged</term><term>Female</term><term>Genotype</term><term>Haplotypes</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Nervous system diseases</term><term>Parkinson Disease (genetics)</term><term>Parkinson disease</term><term>Parkinson's disease</term><term>Parkinsonism</term><term>Polymorphism, Single Nucleotide (genetics)</term><term>Proton-Translocating ATPases (genetics)</term><term>association study</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Proton-Translocating ATPases</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>Adult</term><term>Age of Onset</term><term>Aged</term><term>Female</term><term>Genotype</term><term>Haplotypes</term><term>Humans</term><term>Male</term><term>Middle Aged</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Adenosinetriphosphatase</term><term>Maladie de Parkinson</term><term>Parkinsonisme</term><term>Pathologie du système nerveux</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">A role of ATP13A2 in early‐onset Parkinsonism (EOP) has been proposed. Conversely, the contribution of this ATPase to late‐onset Parkinson's disease (PD) remains unexplored. We therefore conducted a case–control association study in this age‐of‐onset group with PD. The initial sample was of German origin and consisted of 220 patients with late‐onset PD (mean age of onset 60.1 years) and 232 age‐matched unrelated controls. Five single nucleotide polymorphisms (SNPs) covering ATP13A2 and its common haplotypes were genotyped. The overall association results in this sample were negative. Interestingly, gender stratification gave a positive result for SNP rs11203280 (PUNC = 0.016) in men. This result could not be reproduced in a replication sample of German and Serbian origin composed of 161 patients with late‐onset PD (mean age of onset 51.7 years) and 150 age‐ and ethnic‐matched controls. In conclusion, we found no consistent evidence for an association between ATP13A2 and late‐onset PD. © 2008 Movement Disorder Society</div></front></TEI><affiliations><list><country><li>Allemagne</li><li>Serbie</li><li>États-Unis</li></country><region><li>Californie</li><li>District de Cologne</li><li>District de Giessen</li><li>Hesse (Land)</li><li>Rhénanie-du-Nord-Westphalie</li></region><settlement><li>Bonn</li><li>Marbourg</li></settlement></list><tree><country name="Allemagne"><noRegion><name sortKey="Rakovic, Aleksandar" sort="Rakovic, Aleksandar" uniqKey="Rakovic A" first="Aleksandar" last="Rakovic">Aleksandar Rakovic</name></noRegion><name sortKey="Djarmati, Ana" sort="Djarmati, Ana" uniqKey="Djarmati A" first="Ana" last="Djarmati">Ana Djarmati</name><name sortKey="Djarmati, Ana" sort="Djarmati, Ana" uniqKey="Djarmati A" first="Ana" last="Djarmati">Ana Djarmati</name><name sortKey="Flaquer, Antonia" sort="Flaquer, Antonia" uniqKey="Flaquer A" first="Antonia" last="Flaquer">Antonia Flaquer</name><name sortKey="Flaquer, Antonia" sort="Flaquer, Antonia" uniqKey="Flaquer A" first="Antonia" last="Flaquer">Antonia Flaquer</name><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name><name sortKey="Kubisch, Christian" sort="Kubisch, Christian" uniqKey="Kubisch C" first="Christian" last="Kubisch">Christian Kubisch</name><name sortKey="Kubisch, Christian" sort="Kubisch, Christian" uniqKey="Kubisch C" first="Christian" last="Kubisch">Christian Kubisch</name><name sortKey="Kubisch, Christian" sort="Kubisch, Christian" uniqKey="Kubisch C" first="Christian" last="Kubisch">Christian Kubisch</name><name sortKey="Kubisch, Christian" sort="Kubisch, Christian" uniqKey="Kubisch C" first="Christian" last="Kubisch">Christian Kubisch</name><name sortKey="Kubisch, Christian" sort="Kubisch, Christian" uniqKey="Kubisch C" first="Christian" last="Kubisch">Christian Kubisch</name><name sortKey="Linnebank, Michael" sort="Linnebank, Michael" uniqKey="Linnebank M" first="Michael" last="Linnebank">Michael Linnebank</name><name sortKey="Lohmann, Katja" sort="Lohmann, Katja" uniqKey="Lohmann K" first="Katja" last="Lohmann">Katja Lohmann</name><name sortKey="Lohmann, Katja" sort="Lohmann, Katja" uniqKey="Lohmann K" first="Katja" last="Lohmann">Katja Lohmann</name><name sortKey="Nurnberg, Peter" sort="Nurnberg, Peter" uniqKey="Nurnberg P" first="Peter" last="Nürnberg">Peter Nürnberg</name><name sortKey="Nurnberg, Peter" sort="Nurnberg, Peter" uniqKey="Nurnberg P" first="Peter" last="Nürnberg">Peter Nürnberg</name><name sortKey="Nurnberg, Peter" sort="Nurnberg, Peter" uniqKey="Nurnberg P" first="Peter" last="Nürnberg">Peter Nürnberg</name><name sortKey="Paus, Sebastian" sort="Paus, Sebastian" uniqKey="Paus S" first="Sebastian" last="Paus">Sebastian Paus</name><name sortKey="Rakovic, Aleksandar" sort="Rakovic, Aleksandar" uniqKey="Rakovic A" first="Aleksandar" last="Rakovic">Aleksandar Rakovic</name><name sortKey="Ramirez, Alfredo" sort="Ramirez, Alfredo" uniqKey="Ramirez A" first="Alfredo" last="Ramirez">Alfredo Ramirez</name><name sortKey="Ramirez, Alfredo" sort="Ramirez, Alfredo" uniqKey="Ramirez A" first="Alfredo" last="Ramirez">Alfredo Ramirez</name><name sortKey="Ramirez, Alfredo" sort="Ramirez, Alfredo" uniqKey="Ramirez A" first="Alfredo" last="Ramirez">Alfredo Ramirez</name><name sortKey="Stiller, Barbara" sort="Stiller, Barbara" uniqKey="Stiller B" first="Barbara" last="Stiller">Barbara Stiller</name><name sortKey="Stiller, Barbara" sort="Stiller, Barbara" uniqKey="Stiller B" first="Barbara" last="Stiller">Barbara Stiller</name><name sortKey="Stiller, Barbara" sort="Stiller, Barbara" uniqKey="Stiller B" first="Barbara" last="Stiller">Barbara Stiller</name><name sortKey="Toliat, Mohammad Eza" sort="Toliat, Mohammad Eza" uniqKey="Toliat M" first="Mohammad-Reza" last="Toliat">Mohammad-Reza Toliat</name><name sortKey="Toliat, Mohammad Eza" sort="Toliat, Mohammad Eza" uniqKey="Toliat M" first="Mohammad-Reza" last="Toliat">Mohammad-Reza Toliat</name><name sortKey="Wullner, Ullrich" sort="Wullner, Ullrich" uniqKey="Wullner U" first="Ullrich" last="Wüllner">Ullrich Wüllner</name></country><country name="États-Unis"><region name="Californie"><name sortKey="Freudenberg, Jan" sort="Freudenberg, Jan" uniqKey="Freudenberg J" first="Jan" last="Freudenberg">Jan Freudenberg</name></region></country><country name="Serbie"><noRegion><name sortKey="Kostic, Vladimir" sort="Kostic, Vladimir" uniqKey="Kostic V" first="Vladimir" last="Kostic">Vladimir Kostic</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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