UCHL-1 gene in multiple system atrophy : A haplotype tagging approach
Identifieur interne : 005154 ( Main/Merge ); précédent : 005153; suivant : 005155UCHL-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.
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<author><name sortKey="Lees, Andrew J" sort="Lees, Andrew J" uniqKey="Lees A" first="Andrew J." last="Lees">Andrew Lees (neurologue)</name>
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<author><name sortKey="Wood, Nicholas W" sort="Wood, Nicholas W" uniqKey="Wood N" first="Nicholas W." last="Wood">Nicholas W. Wood</name>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">UCHL-1 gene in multiple system atrophy : A haplotype tagging approach</title>
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<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>
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<author><name sortKey="Quinn, Niall" sort="Quinn, Niall" uniqKey="Quinn N" first="Niall" last="Quinn">Niall Quinn</name>
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<author><name sortKey="Ahmadi, Kourosh R" sort="Ahmadi, Kourosh R" uniqKey="Ahmadi K" first="Kourosh R." last="Ahmadi">Kourosh R. Ahmadi</name>
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<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>
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<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Department of Neurology, Brain Research Institute, Niigata University</s1>
<s3>JPN</s3>
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<country>Japon</country>
<wicri:noRegion>Department of Neurology, Brain Research Institute, Niigata University</wicri:noRegion>
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<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>
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<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>
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</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>
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<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>
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</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>
<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>
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