UCHL-1 gene in multiple system atrophy : A haplotype tagging approach
Identifieur interne : 001C76 ( PascalFrancis/Checkpoint ); précédent : 001C75; suivant : 001C77UCHL-1 gene in multiple system atrophy : A haplotype tagging approach
Auteurs : Daniel G. Healy [Royaume-Uni] ; Patrick M. Abou-Sleiman [Royaume-Uni] ; Niall Quinn [Royaume-Uni] ; Kourosh R. Ahmadi [Royaume-Uni] ; Tetsutaro Ozawa [Royaume-Uni, Japon] ; Christoph Kamm [Allemagne] ; Ullrich Wullner [Allemagne] ; Wolfgang H. Oertel [Allemagne] ; Katrin Burk [Allemagne] ; Erik Dupont [Danemark] ; Maria T. Pellecchia [Italie] ; Eduardo Tolosa [Espagne] ; Thomas Gasser [Allemagne] ; Janice L. Holton [Royaume-Uni] ; Tamas Revesz [Royaume-Uni] ; David B. Goldstein [Royaume-Uni] ; Andrew Lees (neurologue) [Royaume-Uni] ; Nicholas W. Wood [Royaume-Uni]Source :
- Movement disorders [ 0885-3185 ] ; 2005.
Descripteurs français
- Pascal (Inist)
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.
Affiliations:
- Allemagne, Danemark, Espagne, Italie, Japon, Royaume-Uni
- Angleterre, Bade-Wurtemberg, Catalogne, District de Giessen, District de Tübingen, Grand Londres, Hesse (Land)
- Barcelone, Londres, Marbourg, Ulm
- National Hospital for Neurology and Neurosurgery, Université d'Ulm, Université de Londres
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Oertel</name><affiliation wicri:level="3"><inist:fA14 i1="08"><s1>Department of Neurology, Philipps University</s1><s2>Marburg</s2><s3>DEU</s3><sZ>8 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="1">Hesse (Land)</region><region type="district" nuts="2">District de Giessen</region><settlement type="city">Marbourg</settlement></placeName></affiliation></author><author><name sortKey="Burk, Katrin" sort="Burk, Katrin" uniqKey="Burk K" first="Katrin" last="Burk">Katrin Burk</name><affiliation wicri:level="4"><inist:fA14 i1="09"><s1>Department of Neurology, University of Ulm</s1><s2>Ulm</s2><s3>DEU</s3><sZ>9 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="1">Bade-Wurtemberg</region><region type="district" nuts="2">District de Tübingen</region><settlement type="city">Ulm</settlement></placeName><orgName type="university">Université d'Ulm</orgName></affiliation></author><author><name sortKey="Dupont, Erik" sort="Dupont, Erik" uniqKey="Dupont E" first="Erik" last="Dupont">Erik Dupont</name><affiliation wicri:level="1"><inist:fA14 i1="10"><s1>Department of Neurology, Aarhus University Hospital</s1><s2>Aarhus</s2><s3>DNK</s3><sZ>10 aut.</sZ></inist:fA14><country>Danemark</country><wicri:noRegion>Aarhus</wicri:noRegion></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"><inist:fA14 i1="11"><s1>Department of Neurological Sciences, University Federico II</s1><s2>Napoli</s2><s3>ITA</s3><sZ>11 aut.</sZ></inist:fA14><country>Italie</country><wicri:noRegion>Napoli</wicri:noRegion></affiliation></author><author><name sortKey="Tolosa, Eduardo" sort="Tolosa, Eduardo" uniqKey="Tolosa E" first="Eduardo" last="Tolosa">Eduardo Tolosa</name><affiliation wicri:level="3"><inist:fA14 i1="12"><s1>Neurology Service, Institut Clinic Malaltias del Sistema Nervios, Hospital Clinic Universitari, University of Barcelona</s1><s2>Barcelona</s2><s3>ESP</s3><sZ>12 aut.</sZ></inist:fA14><country>Espagne</country><placeName><settlement type="city">Barcelone</settlement><region nuts="2" type="region">Catalogne</region></placeName></affiliation></author><author><name sortKey="Gasser, Thomas" sort="Gasser, Thomas" uniqKey="Gasser T" first="Thomas" last="Gasser">Thomas Gasser</name><affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Department of Neurodegenerative Diseases and Hertie-Institute for Clinical Brain Research, University of Tuebingen</s1><s3>DEU</s3><sZ>6 aut.</sZ><sZ>13 aut.</sZ></inist:fA14><country>Allemagne</country><wicri:noRegion>University of Tuebingen</wicri:noRegion><wicri:noRegion>Department of Neurodegenerative Diseases and Hertie-Institute for Clinical Brain Research, University of Tuebingen</wicri:noRegion></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 wicri:level="3"><inist:fA14 i1="01"><s1>Department of Molecular Neuroscience, Institute of Neurology, Queen Square</s1><s2>London</s2><s3>GBR</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>5 aut.</sZ><sZ>14 aut.</sZ><sZ>15 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ></inist:fA14><country>Royaume-Uni</country><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Revesz, Tamas" sort="Revesz, Tamas" uniqKey="Revesz T" first="Tamas" last="Revesz">Tamas Revesz</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Molecular Neuroscience, Institute of Neurology, Queen Square</s1><s2>London</s2><s3>GBR</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>5 aut.</sZ><sZ>14 aut.</sZ><sZ>15 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ></inist:fA14><country>Royaume-Uni</country><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></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 wicri:level="3"><inist:fA14 i1="03"><s1>Department of Biology, University College London, Gower Street</s1><s2>London</s2><s3>GBR</s3><sZ>4 aut.</sZ><sZ>16 aut.</sZ></inist:fA14><country>Royaume-Uni</country><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Lees, Andrew J" sort="Lees, Andrew J" uniqKey="Lees A" first="Andrew J." last="Lees">Andrew Lees (neurologue)</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Molecular Neuroscience, Institute of Neurology, Queen Square</s1><s2>London</s2><s3>GBR</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>5 aut.</sZ><sZ>14 aut.</sZ><sZ>15 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ></inist:fA14><country>Royaume-Uni</country><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName><orgName>National Hospital for Neurology and Neurosurgery</orgName></affiliation><affiliation wicri:level="4"><inist:fA14 i1="13"><s1>Reta Lila Weston Institute for Neurological Studies, University of London</s1><s2>London</s2><s3>GBR</s3><sZ>17 aut.</sZ></inist:fA14><country>Royaume-Uni</country><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName><orgName type="university">Université de Londres</orgName><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName><orgName>National Hospital for Neurology and Neurosurgery</orgName></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 wicri:level="3"><inist:fA14 i1="01"><s1>Department of Molecular Neuroscience, Institute of Neurology, Queen Square</s1><s2>London</s2><s3>GBR</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>5 aut.</sZ><sZ>14 aut.</sZ><sZ>15 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ></inist:fA14><country>Royaume-Uni</country><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">INIST</idno><idno type="inist">06-0001065</idno><date when="2005">2005</date><idno type="stanalyst">PASCAL 06-0001065 INIST</idno><idno type="RBID">Pascal:06-0001065</idno><idno type="wicri:Area/PascalFrancis/Corpus">001D39</idno><idno type="wicri:Area/PascalFrancis/Curation">000F82</idno><idno type="wicri:Area/PascalFrancis/Checkpoint">001C76</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">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 wicri:level="3"><inist:fA14 i1="01"><s1>Department of Molecular Neuroscience, Institute of Neurology, Queen Square</s1><s2>London</s2><s3>GBR</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>5 aut.</sZ><sZ>14 aut.</sZ><sZ>15 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ></inist:fA14><country>Royaume-Uni</country><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Abou Sleiman, Patrick M" sort="Abou Sleiman, Patrick M" uniqKey="Abou Sleiman P" first="Patrick M." last="Abou-Sleiman">Patrick M. Abou-Sleiman</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Molecular Neuroscience, Institute of Neurology, Queen Square</s1><s2>London</s2><s3>GBR</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>5 aut.</sZ><sZ>14 aut.</sZ><sZ>15 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ></inist:fA14><country>Royaume-Uni</country><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Quinn, Niall" sort="Quinn, Niall" uniqKey="Quinn N" first="Niall" last="Quinn">Niall Quinn</name><affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, Queen Square</s1><s2>London</s2><s3>GBR</s3><sZ>3 aut.</sZ></inist:fA14><country>Royaume-Uni</country><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></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 wicri:level="3"><inist:fA14 i1="03"><s1>Department of Biology, University College London, Gower Street</s1><s2>London</s2><s3>GBR</s3><sZ>4 aut.</sZ><sZ>16 aut.</sZ></inist:fA14><country>Royaume-Uni</country><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Ozawa, Tetsutaro" sort="Ozawa, Tetsutaro" uniqKey="Ozawa T" first="Tetsutaro" last="Ozawa">Tetsutaro Ozawa</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Molecular Neuroscience, Institute of Neurology, Queen Square</s1><s2>London</s2><s3>GBR</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>5 aut.</sZ><sZ>14 aut.</sZ><sZ>15 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ></inist:fA14><country>Royaume-Uni</country><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Department of Neurology, Brain Research Institute, Niigata University</s1><s3>JPN</s3><sZ>5 aut.</sZ></inist:fA14><country>Japon</country><wicri:noRegion>Department of Neurology, Brain Research Institute, Niigata University</wicri:noRegion></affiliation></author><author><name sortKey="Kamm, Christoph" sort="Kamm, Christoph" uniqKey="Kamm C" first="Christoph" last="Kamm">Christoph Kamm</name><affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Department of Neurodegenerative Diseases and Hertie-Institute for Clinical Brain Research, University of Tuebingen</s1><s3>DEU</s3><sZ>6 aut.</sZ><sZ>13 aut.</sZ></inist:fA14><country>Allemagne</country><wicri:noRegion>University of Tuebingen</wicri:noRegion><wicri:noRegion>Department of Neurodegenerative Diseases and Hertie-Institute for Clinical Brain Research, University of Tuebingen</wicri:noRegion></affiliation></author><author><name sortKey="Wullner, Ullrich" sort="Wullner, Ullrich" uniqKey="Wullner U" first="Ullrich" last="Wullner">Ullrich Wullner</name><affiliation wicri:level="1"><inist:fA14 i1="06"><s1>Gene Bank Parkinson Germany, Department of Neurology, University of Bonn</s1><s3>DEU</s3><sZ>7 aut.</sZ></inist:fA14><country>Allemagne</country><wicri:noRegion>University of Bonn</wicri:noRegion><wicri:noRegion>Gene Bank Parkinson Germany, Department of Neurology, University of Bonn</wicri:noRegion></affiliation><affiliation wicri:level="1"><inist:fA14 i1="07"><s1>Parkinson Competence Network</s1><s3>DEU</s3><sZ>7 aut.</sZ></inist:fA14><country>Allemagne</country><wicri:noRegion>Parkinson Competence Network</wicri:noRegion><wicri:noRegion>Parkinson Competence Network</wicri:noRegion></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="3"><inist:fA14 i1="08"><s1>Department of Neurology, Philipps University</s1><s2>Marburg</s2><s3>DEU</s3><sZ>8 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="1">Hesse (Land)</region><region type="district" nuts="2">District de Giessen</region><settlement type="city">Marbourg</settlement></placeName></affiliation></author><author><name sortKey="Burk, Katrin" sort="Burk, Katrin" uniqKey="Burk K" first="Katrin" last="Burk">Katrin Burk</name><affiliation wicri:level="4"><inist:fA14 i1="09"><s1>Department of Neurology, University of Ulm</s1><s2>Ulm</s2><s3>DEU</s3><sZ>9 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="1">Bade-Wurtemberg</region><region type="district" nuts="2">District de Tübingen</region><settlement type="city">Ulm</settlement></placeName><orgName type="university">Université d'Ulm</orgName></affiliation></author><author><name sortKey="Dupont, Erik" sort="Dupont, Erik" uniqKey="Dupont E" first="Erik" last="Dupont">Erik Dupont</name><affiliation wicri:level="1"><inist:fA14 i1="10"><s1>Department of Neurology, Aarhus University Hospital</s1><s2>Aarhus</s2><s3>DNK</s3><sZ>10 aut.</sZ></inist:fA14><country>Danemark</country><wicri:noRegion>Aarhus</wicri:noRegion></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"><inist:fA14 i1="11"><s1>Department of Neurological Sciences, University Federico II</s1><s2>Napoli</s2><s3>ITA</s3><sZ>11 aut.</sZ></inist:fA14><country>Italie</country><wicri:noRegion>Napoli</wicri:noRegion></affiliation></author><author><name sortKey="Tolosa, Eduardo" sort="Tolosa, Eduardo" uniqKey="Tolosa E" first="Eduardo" last="Tolosa">Eduardo Tolosa</name><affiliation wicri:level="3"><inist:fA14 i1="12"><s1>Neurology Service, Institut Clinic Malaltias del Sistema Nervios, Hospital Clinic Universitari, University of Barcelona</s1><s2>Barcelona</s2><s3>ESP</s3><sZ>12 aut.</sZ></inist:fA14><country>Espagne</country><placeName><settlement type="city">Barcelone</settlement><region nuts="2" type="region">Catalogne</region></placeName></affiliation></author><author><name sortKey="Gasser, Thomas" sort="Gasser, Thomas" uniqKey="Gasser T" first="Thomas" last="Gasser">Thomas Gasser</name><affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Department of Neurodegenerative Diseases and Hertie-Institute for Clinical Brain Research, University of Tuebingen</s1><s3>DEU</s3><sZ>6 aut.</sZ><sZ>13 aut.</sZ></inist:fA14><country>Allemagne</country><wicri:noRegion>University of Tuebingen</wicri:noRegion><wicri:noRegion>Department of Neurodegenerative Diseases and Hertie-Institute for Clinical Brain Research, University of Tuebingen</wicri:noRegion></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 wicri:level="3"><inist:fA14 i1="01"><s1>Department of Molecular Neuroscience, Institute of Neurology, Queen Square</s1><s2>London</s2><s3>GBR</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>5 aut.</sZ><sZ>14 aut.</sZ><sZ>15 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ></inist:fA14><country>Royaume-Uni</country><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Revesz, Tamas" sort="Revesz, Tamas" uniqKey="Revesz T" first="Tamas" last="Revesz">Tamas Revesz</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Molecular Neuroscience, Institute of Neurology, Queen Square</s1><s2>London</s2><s3>GBR</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>5 aut.</sZ><sZ>14 aut.</sZ><sZ>15 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ></inist:fA14><country>Royaume-Uni</country><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></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 wicri:level="3"><inist:fA14 i1="03"><s1>Department of Biology, University College London, Gower Street</s1><s2>London</s2><s3>GBR</s3><sZ>4 aut.</sZ><sZ>16 aut.</sZ></inist:fA14><country>Royaume-Uni</country><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Lees, Andrew J" sort="Lees, Andrew J" uniqKey="Lees A" first="Andrew J." last="Lees">Andrew Lees (neurologue)</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Molecular Neuroscience, Institute of Neurology, Queen Square</s1><s2>London</s2><s3>GBR</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>5 aut.</sZ><sZ>14 aut.</sZ><sZ>15 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ></inist:fA14><country>Royaume-Uni</country><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName><orgName>National Hospital for Neurology and Neurosurgery</orgName></affiliation><affiliation wicri:level="4"><inist:fA14 i1="13"><s1>Reta Lila Weston Institute for Neurological Studies, University of London</s1><s2>London</s2><s3>GBR</s3><sZ>17 aut.</sZ></inist:fA14><country>Royaume-Uni</country><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName><orgName type="university">Université de Londres</orgName><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName><orgName>National Hospital for Neurology and Neurosurgery</orgName></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 wicri:level="3"><inist:fA14 i1="01"><s1>Department of Molecular Neuroscience, Institute of Neurology, Queen Square</s1><s2>London</s2><s3>GBR</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>5 aut.</sZ><sZ>14 aut.</sZ><sZ>15 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ></inist:fA14><country>Royaume-Uni</country><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></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="2005">2005</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>Haplotype</term><term>Multiple system atrophy</term><term>Nervous system diseases</term><term>Surgical approach</term><term>Tagging</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Système nerveux pathologie</term><term>Atrophie multisystématisée</term><term>Haplotype</term><term>Marquage</term><term>Voie abord</term></keywords></textClass></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.</div></front></TEI><inist><standard h6="B"><pA><fA01 i1="01" i2="1"><s0>0885-3185</s0></fA01><fA03 i2="1"><s0>Mov. disord.</s0></fA03><fA05><s2>20</s2></fA05><fA06><s2>10</s2></fA06><fA08 i1="01" i2="1" l="ENG"><s1>UCHL-1 gene in multiple system atrophy : A haplotype tagging approach</s1></fA08><fA11 i1="01" i2="1"><s1>HEALY (Daniel G.)</s1></fA11><fA11 i1="02" i2="1"><s1>ABOU-SLEIMAN (Patrick M.)</s1></fA11><fA11 i1="03" i2="1"><s1>QUINN (Niall)</s1></fA11><fA11 i1="04" i2="1"><s1>AHMADI (Kourosh R.)</s1></fA11><fA11 i1="05" i2="1"><s1>OZAWA (Tetsutaro)</s1></fA11><fA11 i1="06" i2="1"><s1>KAMM (Christoph)</s1></fA11><fA11 i1="07" i2="1"><s1>WULLNER (Ullrich)</s1></fA11><fA11 i1="08" i2="1"><s1>OERTEL (Wolfgang H.)</s1></fA11><fA11 i1="09" i2="1"><s1>BURK (Katrin)</s1></fA11><fA11 i1="10" i2="1"><s1>DUPONT (Erik)</s1></fA11><fA11 i1="11" i2="1"><s1>PELLECCHIA (Maria T.)</s1></fA11><fA11 i1="12" i2="1"><s1>TOLOSA (Eduardo)</s1></fA11><fA11 i1="13" i2="1"><s1>GASSER (Thomas)</s1></fA11><fA11 i1="14" i2="1"><s1>HOLTON (Janice L.)</s1></fA11><fA11 i1="15" i2="1"><s1>REVESZ (Tamas)</s1></fA11><fA11 i1="16" i2="1"><s1>GOLDSTEIN (David B.)</s1></fA11><fA11 i1="17" i2="1"><s1>LEES (Andrew J.)</s1></fA11><fA11 i1="18" i2="1"><s1>WOOD (Nicholas W.)</s1></fA11><fA14 i1="01"><s1>Department of Molecular Neuroscience, Institute of Neurology, Queen Square</s1><s2>London</s2><s3>GBR</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>5 aut.</sZ><sZ>14 aut.</sZ><sZ>15 aut.</sZ><sZ>17 aut.</sZ><sZ>18 aut.</sZ></fA14><fA14 i1="02"><s1>Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, Queen Square</s1><s2>London</s2><s3>GBR</s3><sZ>3 aut.</sZ></fA14><fA14 i1="03"><s1>Department of Biology, University College London, Gower Street</s1><s2>London</s2><s3>GBR</s3><sZ>4 aut.</sZ><sZ>16 aut.</sZ></fA14><fA14 i1="04"><s1>Department of Neurology, Brain Research Institute, Niigata University</s1><s3>JPN</s3><sZ>5 aut.</sZ></fA14><fA14 i1="05"><s1>Department of Neurodegenerative Diseases and Hertie-Institute for Clinical Brain Research, University of Tuebingen</s1><s3>DEU</s3><sZ>6 aut.</sZ><sZ>13 aut.</sZ></fA14><fA14 i1="06"><s1>Gene Bank Parkinson Germany, Department of Neurology, University of Bonn</s1><s3>DEU</s3><sZ>7 aut.</sZ></fA14><fA14 i1="07"><s1>Parkinson Competence Network</s1><s3>DEU</s3><sZ>7 aut.</sZ></fA14><fA14 i1="08"><s1>Department of Neurology, Philipps University</s1><s2>Marburg</s2><s3>DEU</s3><sZ>8 aut.</sZ></fA14><fA14 i1="09"><s1>Department of Neurology, University of Ulm</s1><s2>Ulm</s2><s3>DEU</s3><sZ>9 aut.</sZ></fA14><fA14 i1="10"><s1>Department of Neurology, Aarhus University Hospital</s1><s2>Aarhus</s2><s3>DNK</s3><sZ>10 aut.</sZ></fA14><fA14 i1="11"><s1>Department of Neurological Sciences, University Federico II</s1><s2>Napoli</s2><s3>ITA</s3><sZ>11 aut.</sZ></fA14><fA14 i1="12"><s1>Neurology Service, Institut Clinic Malaltias del Sistema Nervios, Hospital Clinic Universitari, University of Barcelona</s1><s2>Barcelona</s2><s3>ESP</s3><sZ>12 aut.</sZ></fA14><fA14 i1="13"><s1>Reta Lila Weston Institute for Neurological Studies, University of London</s1><s2>London</s2><s3>GBR</s3><sZ>17 aut.</sZ></fA14><fA17 i1="01" i2="1"><s1>European MSA Study Group</s1><s3>EUR</s3></fA17><fA20><s1>1338-1343</s1></fA20><fA21><s1>2005</s1></fA21><fA23 i1="01"><s0>ENG</s0></fA23><fA43 i1="01"><s1>INIST</s1><s2>20953</s2><s5>354000135138750110</s5></fA43><fA44><s0>0000</s0><s1>© 2006 INIST-CNRS. All rights reserved.</s1></fA44><fA45><s0>18 ref.</s0></fA45><fA47 i1="01" i2="1"><s0>06-0001065</s0></fA47><fA60><s1>P</s1><s3>CC</s3></fA60><fA61><s0>A</s0></fA61><fA64 i1="01" i2="1"><s0>Movement disorders</s0></fA64><fA66 i1="01"><s0>USA</s0></fA66><fC01 i1="01" l="ENG"><s0>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.</s0></fC01><fC02 i1="01" i2="X"><s0>002B17</s0></fC02><fC02 i1="02" i2="X"><s0>002B17F</s0></fC02><fC02 i1="03" i2="X"><s0>002B17G</s0></fC02><fC03 i1="01" i2="X" l="FRE"><s0>Système nerveux pathologie</s0><s5>01</s5></fC03><fC03 i1="01" i2="X" l="ENG"><s0>Nervous system diseases</s0><s5>01</s5></fC03><fC03 i1="01" i2="X" l="SPA"><s0>Sistema nervioso patología</s0><s5>01</s5></fC03><fC03 i1="02" i2="X" l="FRE"><s0>Atrophie multisystématisée</s0><s2>NM</s2><s5>02</s5></fC03><fC03 i1="02" i2="X" l="ENG"><s0>Multiple system atrophy</s0><s2>NM</s2><s5>02</s5></fC03><fC03 i1="02" i2="X" l="SPA"><s0>Atrofia multisistematizada</s0><s2>NM</s2><s5>02</s5></fC03><fC03 i1="03" i2="X" l="FRE"><s0>Haplotype</s0><s5>09</s5></fC03><fC03 i1="03" i2="X" l="ENG"><s0>Haplotype</s0><s5>09</s5></fC03><fC03 i1="03" i2="X" l="SPA"><s0>Haplotipo</s0><s5>09</s5></fC03><fC03 i1="04" i2="X" l="FRE"><s0>Marquage</s0><s5>10</s5></fC03><fC03 i1="04" i2="X" l="ENG"><s0>Tagging</s0><s5>10</s5></fC03><fC03 i1="04" i2="X" l="SPA"><s0>Marcación</s0><s5>10</s5></fC03><fC03 i1="05" i2="X" l="FRE"><s0>Voie abord</s0><s5>11</s5></fC03><fC03 i1="05" i2="X" l="ENG"><s0>Surgical approach</s0><s5>11</s5></fC03><fC03 i1="05" i2="X" l="SPA"><s0>Vía abordaje</s0><s5>11</s5></fC03><fN21><s1>002</s1></fN21><fN44 i1="01"><s1>OTO</s1></fN44><fN82><s1>OTO</s1></fN82></pA></standard></inist><affiliations><list><country><li>Allemagne</li><li>Danemark</li><li>Espagne</li><li>Italie</li><li>Japon</li><li>Royaume-Uni</li></country><region><li>Angleterre</li><li>Bade-Wurtemberg</li><li>Catalogne</li><li>District de Giessen</li><li>District de Tübingen</li><li>Grand Londres</li><li>Hesse (Land)</li></region><settlement><li>Barcelone</li><li>Londres</li><li>Marbourg</li><li>Ulm</li></settlement><orgName><li>National Hospital for Neurology and Neurosurgery</li><li>Université d'Ulm</li><li>Université de Londres</li></orgName></list><tree><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Healy, Daniel G" sort="Healy, Daniel G" uniqKey="Healy D" first="Daniel G." last="Healy">Daniel G. Healy</name></region><name sortKey="Abou Sleiman, Patrick M" sort="Abou Sleiman, Patrick M" uniqKey="Abou Sleiman P" first="Patrick M." last="Abou-Sleiman">Patrick M. Abou-Sleiman</name><name sortKey="Ahmadi, Kourosh R" sort="Ahmadi, Kourosh R" uniqKey="Ahmadi K" first="Kourosh R." last="Ahmadi">Kourosh R. Ahmadi</name><name sortKey="Goldstein, David B" sort="Goldstein, David B" uniqKey="Goldstein D" first="David B." last="Goldstein">David B. Goldstein</name><name sortKey="Holton, Janice L" sort="Holton, Janice L" uniqKey="Holton J" first="Janice L." last="Holton">Janice L. Holton</name><name sortKey="Lees, Andrew J" sort="Lees, Andrew J" uniqKey="Lees A" first="Andrew J." last="Lees">Andrew Lees (neurologue)</name><name sortKey="Lees, Andrew J" sort="Lees, Andrew J" uniqKey="Lees A" first="Andrew J." last="Lees">Andrew Lees (neurologue)</name><name sortKey="Ozawa, Tetsutaro" sort="Ozawa, Tetsutaro" uniqKey="Ozawa T" first="Tetsutaro" last="Ozawa">Tetsutaro Ozawa</name><name sortKey="Quinn, Niall" sort="Quinn, Niall" uniqKey="Quinn N" first="Niall" last="Quinn">Niall Quinn</name><name sortKey="Revesz, Tamas" sort="Revesz, Tamas" uniqKey="Revesz T" first="Tamas" last="Revesz">Tamas Revesz</name><name sortKey="Wood, Nicholas W" sort="Wood, Nicholas W" uniqKey="Wood N" first="Nicholas W." last="Wood">Nicholas W. Wood</name></country><country name="Japon"><noRegion><name sortKey="Ozawa, Tetsutaro" sort="Ozawa, Tetsutaro" uniqKey="Ozawa T" first="Tetsutaro" last="Ozawa">Tetsutaro Ozawa</name></noRegion></country><country name="Allemagne"><noRegion><name sortKey="Kamm, Christoph" sort="Kamm, Christoph" uniqKey="Kamm C" first="Christoph" last="Kamm">Christoph Kamm</name></noRegion><name sortKey="Burk, Katrin" sort="Burk, Katrin" uniqKey="Burk K" first="Katrin" last="Burk">Katrin Burk</name><name sortKey="Gasser, Thomas" sort="Gasser, Thomas" uniqKey="Gasser T" first="Thomas" last="Gasser">Thomas Gasser</name><name sortKey="Oertel, Wolfgang H" sort="Oertel, Wolfgang H" uniqKey="Oertel W" first="Wolfgang H." last="Oertel">Wolfgang H. Oertel</name><name sortKey="Wullner, Ullrich" sort="Wullner, Ullrich" uniqKey="Wullner U" first="Ullrich" last="Wullner">Ullrich Wullner</name><name sortKey="Wullner, Ullrich" sort="Wullner, Ullrich" uniqKey="Wullner U" first="Ullrich" last="Wullner">Ullrich Wullner</name></country><country name="Danemark"><noRegion><name sortKey="Dupont, Erik" sort="Dupont, Erik" uniqKey="Dupont E" first="Erik" last="Dupont">Erik Dupont</name></noRegion></country><country name="Italie"><noRegion><name sortKey="Pellecchia, Maria T" sort="Pellecchia, Maria T" uniqKey="Pellecchia M" first="Maria T." last="Pellecchia">Maria T. Pellecchia</name></noRegion></country><country name="Espagne"><region name="Catalogne"><name sortKey="Tolosa, Eduardo" sort="Tolosa, Eduardo" uniqKey="Tolosa E" first="Eduardo" last="Tolosa">Eduardo Tolosa</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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