UCHL‐1 gene in multiple system atrophy: A haplotype tagging approach
Identifieur interne : 003687 ( Main/Exploration ); précédent : 003686; suivant : 003688UCHL‐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 Lees (neurologue) [Royaume-Uni] ; Nicholas W. WoodSource :
- Movement Disorders [ 0885-3185 ] ; 2005-10.
Descripteurs français
- Pascal (Inist)
English descriptors
- KwdEn :
- Adult, Aged, Aged, 80 and over, Expressed Sequence Tags (metabolism), Female, Gene Library, Genotype, Haplotype, Haplotypes (genetics), Humans, Linkage Disequilibrium, Male, Middle Aged, Multiple System Atrophy (genetics), Multiple System Atrophy (metabolism), Multiple system atrophy, Nervous system diseases, Polymorphism, Single Nucleotide (genetics), Surgical approach, Tagging, UCHL‐1, haplotype tagging, Ubiquitin Thiolesterase (genetics), haplotype diversity, multiple system atrophy.
- MESH :
- chemical , genetics : Ubiquitin Thiolesterase.
- genetics : Haplotypes, Multiple System Atrophy, Polymorphism, Single Nucleotide.
- metabolism : Expressed Sequence Tags, Multiple System Atrophy.
- Adult, Aged, Aged, 80 and over, Female, Gene Library, Genotype, Humans, Linkage Disequilibrium, Male, Middle Aged.
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
Url:
DOI: 10.1002/mds.20575
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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Healy</name><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><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><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><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><wicri:noCountry code="subField">London United Kingdom</wicri:noCountry></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Neurology, Brain Research Institute, Niigata University</wicri:regionArea><wicri:noRegion>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"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurodegenerative Diseases and Hertie‐Institute for Clinical Brain Research, University of Tuebingen</wicri:regionArea><wicri:noRegion>University of Tuebingen</wicri:noRegion><wicri:noRegion>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: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="3"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, Philipps University, Marburg</wicri:regionArea><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"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, University of Ulm, Ulm</wicri:regionArea><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"><country xml:lang="fr">Danemark</country><wicri:regionArea>Department of Neurology, Aarhus University Hospital, Aarhus</wicri:regionArea><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"><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Neurological Sciences, University Federico II, Napoli</wicri:regionArea><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"><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><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"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurodegenerative Diseases and Hertie‐Institute for Clinical Brain Research, University of Tuebingen</wicri:regionArea><wicri:noRegion>University of Tuebingen</wicri:noRegion><wicri:noRegion>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: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><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><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 Lees (neurologue)</name><affiliation><wicri:noCountry code="subField">London United Kingdom</wicri:noCountry><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>National Hospital for Neurology and Neurosurgery</orgName></affiliation><affiliation wicri:level="4"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Reta Lila Weston Institute for Neurological Studies, University of London, London</wicri:regionArea><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: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>Adult</term><term>Aged</term><term>Aged, 80 and over</term><term>Expressed Sequence Tags (metabolism)</term><term>Female</term><term>Gene Library</term><term>Genotype</term><term>Haplotype</term><term>Haplotypes (genetics)</term><term>Humans</term><term>Linkage Disequilibrium</term><term>Male</term><term>Middle Aged</term><term>Multiple System Atrophy (genetics)</term><term>Multiple System Atrophy (metabolism)</term><term>Multiple system atrophy</term><term>Nervous system diseases</term><term>Polymorphism, Single Nucleotide (genetics)</term><term>Surgical approach</term><term>Tagging</term><term>UCHL‐1, haplotype tagging</term><term>Ubiquitin Thiolesterase (genetics)</term><term>haplotype diversity</term><term>multiple system atrophy</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Ubiquitin Thiolesterase</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Haplotypes</term><term>Multiple System Atrophy</term><term>Polymorphism, Single Nucleotide</term></keywords><keywords scheme="MESH" qualifier="metabolism" xml:lang="en"><term>Expressed Sequence Tags</term><term>Multiple System Atrophy</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Aged</term><term>Aged, 80 and over</term><term>Female</term><term>Gene Library</term><term>Genotype</term><term>Humans</term><term>Linkage Disequilibrium</term><term>Male</term><term>Middle Aged</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Atrophie multisystématisée</term><term>Haplotype</term><term>Marquage</term><term>Système nerveux pathologie</term><term>Voie abord</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><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><noCountry><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><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="Healy, Daniel G" sort="Healy, Daniel G" uniqKey="Healy D" first="Daniel G." last="Healy">Daniel G. Healy</name><name sortKey="Holton, Janice L" sort="Holton, Janice L" uniqKey="Holton J" first="Janice L." last="Holton">Janice L. Holton</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><name sortKey="Wullner, Ullrich" sort="Wullner, Ullrich" uniqKey="Wullner U" first="Ullrich" last="Wullner">Ullrich Wullner</name></noCountry><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></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><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Lees, Andrew J" sort="Lees, Andrew J" uniqKey="Lees A" first="Andrew J." last="Lees">Andrew Lees (neurologue)</name></region><name sortKey="Lees, Andrew J" sort="Lees, Andrew J" uniqKey="Lees A" first="Andrew J." last="Lees">Andrew Lees (neurologue)</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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