UCHL‐1 gene in multiple system atrophy: A haplotype tagging approach
Identifieur interne : 002711 ( Istex/Curation ); précédent : 002710; suivant : 002712UCHL‐1 gene in multiple system atrophy: A haplotype tagging approach
Auteurs : Daniel G. Healy ; Patrick M. Abou-Sleiman ; Niall Quinn ; Kourosh R. Ahmadi ; Tetsutaro Ozawa [Japon] ; Christoph Kamm [Allemagne] ; Ullrich Wullner ; Wolfgang H. Oertel [Allemagne] ; Katrin Burk [Allemagne] ; Erik Dupont [Danemark] ; Maria T. Pellecchia [Italie] ; Eduardo Tolosa [Espagne] ; Thomas Gasser [Allemagne] ; Janice L. Holton ; Tamas Revesz ; David B. Goldstein ; Andrew J. Lees [Royaume-Uni] ; Nicholas W. WoodSource :
- Movement Disorders [ 0885-3185 ] ; 2005-10.
English descriptors
Abstract
To date, the etiology of multiple system atrophy (MSA) has proved impenetrable. We investigated the role of genetic variation in the UCHL‐1 gene in MSA and looked for the presence of disease susceptibility alleles. We determined the linkage disequilibrium structure of the gene and employed a haplotype tagging strategy with power to represent 95% of the haplotype diversity. This approach was performed using a set of tagging single nucleotide polymorphisms (SNPs) that can infer the allelic state of all the common SNPs in UCHL‐1 with a high coefficient of determination. This strategy enabled us to scan across the gene and maintain the power to detect signal(s) from any potential functional variant(s). In 257 Gilman‐probable or ‐definite MSA subjects and 1,536 controls, we did not detect a case–control frequency difference for either the tagged haplotypes or for individual tagging SNPs. This search included the S18Y variant of UCHL‐1, which has been reported to be protective in Parkinson's disease. © 2005 Movement Disorder Society
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DOI: 10.1002/mds.20575
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Daniel G. Healy<affiliation><mods:affiliation>Department of Molecular Neuroscience, Institute of Neurology, Queen Square, London United Kingdom</mods:affiliation><wicri:noCountry code="subField">London United Kingdom</wicri:noCountry></affiliation><affiliation><mods:affiliation>Department of Molecular Neuroscience, Institute of Neurology, Queen Square, London United Kingdom</mods:affiliation><wicri:noCountry code="subField">London United Kingdom</wicri:noCountry></affiliation><affiliation><mods:affiliation>Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, Queen Square, London United Kingdom</mods:affiliation><wicri:noCountry code="subField">London United Kingdom</wicri:noCountry></affiliation><affiliation><mods:affiliation>Department of Biology, University College London, Gower Street, London United Kingdom</mods:affiliation><wicri:noCountry code="subField">London United Kingdom</wicri:noCountry></affiliation><affiliation><mods:affiliation>Department of Molecular Neuroscience, Institute of Neurology, Queen Square, London United Kingdom</mods:affiliation><wicri:noCountry code="subField">London United Kingdom</wicri:noCountry></affiliation><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, Brain Research Institute, Niigata University, Japan</mods:affiliation><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Neurology, Brain Research Institute, Niigata University</wicri:regionArea></affiliation><affiliation><mods:affiliation>Gene Bank Parkinson Germany, Department of Neurology, University of Bonn, Germany, and Parkinson Competence Network</mods:affiliation><wicri:noCountry code="subField">and Parkinson Competence Network</wicri:noCountry></affiliation><affiliation><mods:affiliation>Department of Molecular Neuroscience, Institute of Neurology, Queen Square, London United Kingdom</mods:affiliation><wicri:noCountry code="subField">London United Kingdom</wicri:noCountry></affiliation><affiliation><mods:affiliation>Department of Molecular Neuroscience, Institute of Neurology, Queen Square, London United Kingdom</mods:affiliation><wicri:noCountry code="subField">London United Kingdom</wicri:noCountry></affiliation><affiliation><mods:affiliation>Department of Biology, University College London, Gower Street, London United Kingdom</mods:affiliation><wicri:noCountry code="subField">London United Kingdom</wicri:noCountry></affiliation><affiliation><mods:affiliation>Department of Molecular Neuroscience, Institute of Neurology, Queen Square, London United Kingdom</mods:affiliation><wicri:noCountry code="subField">London United Kingdom</wicri:noCountry></affiliation><affiliation wicri:level="1"><mods:affiliation>Reta Lila Weston Institute for Neurological Studies, University of London, London, United Kingdom</mods:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Reta Lila Weston Institute for Neurological Studies, University of London, London</wicri:regionArea></affiliation><affiliation><mods:affiliation>Department of Molecular Neuroscience, Institute of Neurology, Queen Square, London United Kingdom</mods:affiliation><wicri:noCountry code="subField">London United Kingdom</wicri:noCountry></affiliation>Le document en format XML
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Abou-Sleiman</name><affiliation><mods:affiliation>Department of Molecular Neuroscience, Institute of Neurology, Queen Square, London United Kingdom</mods:affiliation><wicri:noCountry code="subField">London United Kingdom</wicri:noCountry></affiliation></author><author><name sortKey="Quinn, Niall" sort="Quinn, Niall" uniqKey="Quinn N" first="Niall" last="Quinn">Niall Quinn</name><affiliation><mods:affiliation>Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, Queen Square, London United Kingdom</mods:affiliation><wicri:noCountry code="subField">London United Kingdom</wicri:noCountry></affiliation></author><author><name sortKey="Ahmadi, Kourosh R" sort="Ahmadi, Kourosh R" uniqKey="Ahmadi K" first="Kourosh R." last="Ahmadi">Kourosh R. 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Oertel</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, Philipps University, Marburg, Germany</mods:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, Philipps University, Marburg</wicri:regionArea></affiliation></author><author><name sortKey="Burk, Katrin" sort="Burk, Katrin" uniqKey="Burk K" first="Katrin" last="Burk">Katrin Burk</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, University of Ulm, Ulm, Germany</mods:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, University of Ulm, Ulm</wicri:regionArea></affiliation></author><author><name sortKey="Dupont, Erik" sort="Dupont, Erik" uniqKey="Dupont E" first="Erik" last="Dupont">Erik Dupont</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, Aarhus University Hospital, Aarhus, Denmark</mods:affiliation><country xml:lang="fr">Danemark</country><wicri:regionArea>Department of Neurology, Aarhus University Hospital, Aarhus</wicri:regionArea></affiliation></author><author><name sortKey="Pellecchia, Maria T" sort="Pellecchia, Maria T" uniqKey="Pellecchia M" first="Maria T." last="Pellecchia">Maria T. Pellecchia</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurological Sciences, University Federico II, Napoli, Italy</mods:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Neurological Sciences, University Federico II, Napoli</wicri:regionArea></affiliation></author><author><name sortKey="Tolosa, Eduardo" sort="Tolosa, Eduardo" uniqKey="Tolosa E" first="Eduardo" last="Tolosa">Eduardo Tolosa</name><affiliation wicri:level="1"><mods:affiliation>Neurology Service, Institut Clinic Malaltias del Sistema Nervios, Hospital Clinic Universitari, University of Barcelona, Barcelona, Spain</mods:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>Neurology Service, Institut Clinic Malaltias del Sistema Nervios, Hospital Clinic Universitari, University of Barcelona, Barcelona</wicri:regionArea></affiliation></author><author><name sortKey="Gasser, Thomas" sort="Gasser, Thomas" uniqKey="Gasser T" first="Thomas" last="Gasser">Thomas Gasser</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurodegenerative Diseases and Hertie‐Institute for Clinical Brain Research, University of Tuebingen, Germany</mods:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurodegenerative Diseases and Hertie‐Institute for Clinical Brain Research, University of Tuebingen</wicri:regionArea></affiliation></author><author><name sortKey="Holton, Janice L" sort="Holton, Janice L" uniqKey="Holton J" first="Janice L." last="Holton">Janice L. Holton</name><affiliation><mods:affiliation>Department of Molecular Neuroscience, Institute of Neurology, Queen Square, London United Kingdom</mods:affiliation><wicri:noCountry code="subField">London United Kingdom</wicri:noCountry></affiliation></author><author><name sortKey="Revesz, Tamas" sort="Revesz, Tamas" uniqKey="Revesz T" first="Tamas" last="Revesz">Tamas Revesz</name><affiliation><mods:affiliation>Department of Molecular Neuroscience, Institute of Neurology, Queen Square, London United Kingdom</mods:affiliation><wicri:noCountry code="subField">London United Kingdom</wicri:noCountry></affiliation></author><author><name sortKey="Goldstein, David B" sort="Goldstein, David B" uniqKey="Goldstein D" first="David B." last="Goldstein">David B. Goldstein</name><affiliation><mods:affiliation>Department of Biology, University College London, Gower Street, London United Kingdom</mods:affiliation><wicri:noCountry code="subField">London United Kingdom</wicri:noCountry></affiliation></author><author><name sortKey="Lees, Andrew J" sort="Lees, Andrew J" uniqKey="Lees A" first="Andrew J." last="Lees">Andrew J. Lees</name><affiliation><mods:affiliation>Department of Molecular Neuroscience, Institute of Neurology, Queen Square, London United Kingdom</mods:affiliation><wicri:noCountry code="subField">London United Kingdom</wicri:noCountry></affiliation><affiliation wicri:level="1"><mods:affiliation>Reta Lila Weston Institute for Neurological Studies, University of London, London, United Kingdom</mods:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Reta Lila Weston Institute for Neurological Studies, University of London, London</wicri:regionArea></affiliation></author><author><name sortKey="Wood, Nicholas W" sort="Wood, Nicholas W" uniqKey="Wood N" first="Nicholas W." last="Wood">Nicholas W. Wood</name><affiliation><mods:affiliation>Department of Molecular Neuroscience, Institute of Neurology, Queen Square, London United Kingdom</mods:affiliation><wicri:noCountry code="subField">London United Kingdom</wicri:noCountry></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:9875802D9DA96C07707CF75686C804D845A7E9A9</idno><date when="2005" year="2005">2005</date><idno type="doi">10.1002/mds.20575</idno><idno type="url">https://api.istex.fr/document/9875802D9DA96C07707CF75686C804D845A7E9A9/fulltext/pdf</idno><idno type="wicri:Area/Istex/Corpus">002711</idno><idno type="wicri:Area/Istex/Curation">002711</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">UCHL‐1 gene in multiple system atrophy: A haplotype tagging approach</title><author><name sortKey="Healy, Daniel G" sort="Healy, Daniel G" uniqKey="Healy D" first="Daniel G." last="Healy">Daniel G. Healy</name><affiliation><mods:affiliation>Department of Molecular Neuroscience, Institute of Neurology, Queen Square, London United Kingdom</mods:affiliation><wicri:noCountry code="subField">London United Kingdom</wicri:noCountry></affiliation></author><author><name sortKey="Abou Leiman, Patrick M" sort="Abou Leiman, Patrick M" uniqKey="Abou Leiman P" first="Patrick M." last="Abou-Sleiman">Patrick M. Abou-Sleiman</name><affiliation><mods:affiliation>Department of Molecular Neuroscience, Institute of Neurology, Queen Square, London United Kingdom</mods:affiliation><wicri:noCountry code="subField">London United Kingdom</wicri:noCountry></affiliation></author><author><name sortKey="Quinn, Niall" sort="Quinn, Niall" uniqKey="Quinn N" first="Niall" last="Quinn">Niall Quinn</name><affiliation><mods:affiliation>Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, Queen Square, London United Kingdom</mods:affiliation><wicri:noCountry code="subField">London United Kingdom</wicri:noCountry></affiliation></author><author><name sortKey="Ahmadi, Kourosh R" sort="Ahmadi, Kourosh R" uniqKey="Ahmadi K" first="Kourosh R." last="Ahmadi">Kourosh R. Ahmadi</name><affiliation><mods:affiliation>Department of Biology, University College London, Gower Street, London United Kingdom</mods:affiliation><wicri:noCountry code="subField">London United Kingdom</wicri:noCountry></affiliation></author><author><name sortKey="Ozawa, Tetsutaro" sort="Ozawa, Tetsutaro" uniqKey="Ozawa T" first="Tetsutaro" last="Ozawa">Tetsutaro Ozawa</name><affiliation><mods:affiliation>Department of Molecular Neuroscience, Institute of Neurology, Queen Square, London United Kingdom</mods:affiliation><wicri:noCountry code="subField">London United Kingdom</wicri:noCountry></affiliation><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, Brain Research Institute, Niigata University, Japan</mods:affiliation><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Neurology, Brain Research Institute, Niigata University</wicri:regionArea></affiliation></author><author><name sortKey="Kamm, Christoph" sort="Kamm, Christoph" uniqKey="Kamm C" first="Christoph" last="Kamm">Christoph Kamm</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurodegenerative Diseases and Hertie‐Institute for Clinical Brain Research, University of Tuebingen, Germany</mods:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurodegenerative Diseases and Hertie‐Institute for Clinical Brain Research, University of Tuebingen</wicri:regionArea></affiliation></author><author><name sortKey="Wullner, Ullrich" sort="Wullner, Ullrich" uniqKey="Wullner U" first="Ullrich" last="Wullner">Ullrich Wullner</name><affiliation><mods:affiliation>Gene Bank Parkinson Germany, Department of Neurology, University of Bonn, Germany, and Parkinson Competence Network</mods:affiliation><wicri:noCountry code="subField">and Parkinson Competence Network</wicri:noCountry></affiliation></author><author><name sortKey="Oertel, Wolfgang H" sort="Oertel, Wolfgang H" uniqKey="Oertel W" first="Wolfgang H." last="Oertel">Wolfgang H. Oertel</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, Philipps University, Marburg, Germany</mods:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, Philipps University, Marburg</wicri:regionArea></affiliation></author><author><name sortKey="Burk, Katrin" sort="Burk, Katrin" uniqKey="Burk K" first="Katrin" last="Burk">Katrin Burk</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, University of Ulm, Ulm, Germany</mods:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, University of Ulm, Ulm</wicri:regionArea></affiliation></author><author><name sortKey="Dupont, Erik" sort="Dupont, Erik" uniqKey="Dupont E" first="Erik" last="Dupont">Erik Dupont</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, Aarhus University Hospital, Aarhus, Denmark</mods:affiliation><country xml:lang="fr">Danemark</country><wicri:regionArea>Department of Neurology, Aarhus University Hospital, Aarhus</wicri:regionArea></affiliation></author><author><name sortKey="Pellecchia, Maria T" sort="Pellecchia, Maria T" uniqKey="Pellecchia M" first="Maria T." last="Pellecchia">Maria T. Pellecchia</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurological Sciences, University Federico II, Napoli, Italy</mods:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Neurological Sciences, University Federico II, Napoli</wicri:regionArea></affiliation></author><author><name sortKey="Tolosa, Eduardo" sort="Tolosa, Eduardo" uniqKey="Tolosa E" first="Eduardo" last="Tolosa">Eduardo Tolosa</name><affiliation wicri:level="1"><mods:affiliation>Neurology Service, Institut Clinic Malaltias del Sistema Nervios, Hospital Clinic Universitari, University of Barcelona, Barcelona, Spain</mods:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>Neurology Service, Institut Clinic Malaltias del Sistema Nervios, Hospital Clinic Universitari, University of Barcelona, Barcelona</wicri:regionArea></affiliation></author><author><name sortKey="Gasser, Thomas" sort="Gasser, Thomas" uniqKey="Gasser T" first="Thomas" last="Gasser">Thomas Gasser</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurodegenerative Diseases and Hertie‐Institute for Clinical Brain Research, University of Tuebingen, Germany</mods:affiliation><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurodegenerative Diseases and Hertie‐Institute for Clinical Brain Research, University of Tuebingen</wicri:regionArea></affiliation></author><author><name sortKey="Holton, Janice L" sort="Holton, Janice L" uniqKey="Holton J" first="Janice L." last="Holton">Janice L. Holton</name><affiliation><mods:affiliation>Department of Molecular Neuroscience, Institute of Neurology, Queen Square, London United Kingdom</mods:affiliation><wicri:noCountry code="subField">London United Kingdom</wicri:noCountry></affiliation></author><author><name sortKey="Revesz, Tamas" sort="Revesz, Tamas" uniqKey="Revesz T" first="Tamas" last="Revesz">Tamas Revesz</name><affiliation><mods:affiliation>Department of Molecular Neuroscience, Institute of Neurology, Queen Square, London United Kingdom</mods:affiliation><wicri:noCountry code="subField">London United Kingdom</wicri:noCountry></affiliation></author><author><name sortKey="Goldstein, David B" sort="Goldstein, David B" uniqKey="Goldstein D" first="David B." last="Goldstein">David B. Goldstein</name><affiliation><mods:affiliation>Department of Biology, University College London, Gower Street, London United Kingdom</mods:affiliation><wicri:noCountry code="subField">London United Kingdom</wicri:noCountry></affiliation></author><author><name sortKey="Lees, Andrew J" sort="Lees, Andrew J" uniqKey="Lees A" first="Andrew J." last="Lees">Andrew J. Lees</name><affiliation><mods:affiliation>Department of Molecular Neuroscience, Institute of Neurology, Queen Square, London United Kingdom</mods:affiliation><wicri:noCountry code="subField">London United Kingdom</wicri:noCountry></affiliation><affiliation wicri:level="1"><mods:affiliation>Reta Lila Weston Institute for Neurological Studies, University of London, London, United Kingdom</mods:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Reta Lila Weston Institute for Neurological Studies, University of London, London</wicri:regionArea></affiliation></author><author><name sortKey="Wood, Nicholas W" sort="Wood, Nicholas W" uniqKey="Wood N" first="Nicholas W." last="Wood">Nicholas W. Wood</name><affiliation><mods:affiliation>Department of Molecular Neuroscience, Institute of Neurology, Queen Square, London United Kingdom</mods:affiliation><wicri:noCountry code="subField">London United Kingdom</wicri:noCountry></affiliation></author></analytic><monogr></monogr><series><title level="j">Movement Disorders</title><title level="j" type="sub">Official Journal of the Movement Disorder Society</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="2005-10">2005-10</date><biblScope unit="vol">20</biblScope><biblScope unit="issue">10</biblScope><biblScope unit="page" from="1338">1338</biblScope><biblScope unit="page" to="1343">1343</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">9875802D9DA96C07707CF75686C804D845A7E9A9</idno><idno type="DOI">10.1002/mds.20575</idno><idno type="ArticleID">MDS20575</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>UCHL‐1, haplotype tagging</term><term>haplotype diversity</term><term>multiple system atrophy</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">To date, the etiology of multiple system atrophy (MSA) has proved impenetrable. We investigated the role of genetic variation in the UCHL‐1 gene in MSA and looked for the presence of disease susceptibility alleles. We determined the linkage disequilibrium structure of the gene and employed a haplotype tagging strategy with power to represent 95% of the haplotype diversity. This approach was performed using a set of tagging single nucleotide polymorphisms (SNPs) that can infer the allelic state of all the common SNPs in UCHL‐1 with a high coefficient of determination. This strategy enabled us to scan across the gene and maintain the power to detect signal(s) from any potential functional variant(s). In 257 Gilman‐probable or ‐definite MSA subjects and 1,536 controls, we did not detect a case–control frequency difference for either the tagged haplotypes or for individual tagging SNPs. This search included the S18Y variant of UCHL‐1, which has been reported to be protective in Parkinson's disease. © 2005 Movement Disorder Society</div></front></TEI></record>Pour manipuler ce document sous Unix (Dilib)
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