UCHL-1 gene in multiple system atrophy: a haplotype tagging approach.
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Auteurs : Daniel G. Healy ; Patrick M. Abou-Sleiman ; Niall Quinn ; Kourosh R. Ahmadi ; Tetsutaro Ozawa ; Christoph Kamm ; Ullrich Wullner ; Wolfgang H. Oertel ; Katrin Burk ; Erik Dupont ; Maria T. Pellecchia ; Eduardo Tolosa ; Thomas Gasser ; Janice L. Holton ; Tamas Revesz ; David B. Goldstein ; Andrew J. Lees ; Nicholas W. WoodSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2005.
English descriptors
- KwdEn :
- Adult, Aged, Aged, 80 and over, Expressed Sequence Tags (metabolism), Female, Gene Library, Genotype, Haplotypes (genetics), Humans, Linkage Disequilibrium, Male, Middle Aged, Multiple System Atrophy (genetics), Multiple System Atrophy (metabolism), Polymorphism, Single Nucleotide (genetics), Ubiquitin Thiolesterase (genetics).
- 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.
DOI: 10.1002/mds.20575
PubMed: 16007636
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Daniel G. Healy<affiliation><nlm:affiliation>Department of Molecular Neuroscience, Institute of Neurology, Queen Square, London United Kingdom.</nlm:affiliation><wicri:noCountry code="subField">London United Kingdom</wicri:noCountry></affiliation>Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title 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><nlm:affiliation>Department of Molecular Neuroscience, Institute of Neurology, Queen Square, London United Kingdom.</nlm:affiliation><wicri:noCountry code="subField">London United Kingdom</wicri:noCountry></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></author><author><name sortKey="Quinn, Niall" sort="Quinn, Niall" uniqKey="Quinn N" first="Niall" last="Quinn">Niall Quinn</name></author><author><name sortKey="Ahmadi, Kourosh R" sort="Ahmadi, Kourosh R" uniqKey="Ahmadi K" first="Kourosh R" last="Ahmadi">Kourosh R. Ahmadi</name></author><author><name sortKey="Ozawa, Tetsutaro" sort="Ozawa, Tetsutaro" uniqKey="Ozawa T" first="Tetsutaro" last="Ozawa">Tetsutaro Ozawa</name></author><author><name sortKey="Kamm, Christoph" sort="Kamm, Christoph" uniqKey="Kamm C" first="Christoph" last="Kamm">Christoph Kamm</name></author><author><name sortKey="Wullner, Ullrich" sort="Wullner, Ullrich" uniqKey="Wullner U" first="Ullrich" last="Wullner">Ullrich Wullner</name></author><author><name sortKey="Oertel, Wolfgang H" sort="Oertel, Wolfgang H" uniqKey="Oertel W" first="Wolfgang H" last="Oertel">Wolfgang H. Oertel</name></author><author><name sortKey="Burk, Katrin" sort="Burk, Katrin" uniqKey="Burk K" first="Katrin" last="Burk">Katrin Burk</name></author><author><name sortKey="Dupont, Erik" sort="Dupont, Erik" uniqKey="Dupont E" first="Erik" last="Dupont">Erik Dupont</name></author><author><name sortKey="Pellecchia, Maria T" sort="Pellecchia, Maria T" uniqKey="Pellecchia M" first="Maria T" last="Pellecchia">Maria T. Pellecchia</name></author><author><name sortKey="Tolosa, Eduardo" sort="Tolosa, Eduardo" uniqKey="Tolosa E" first="Eduardo" last="Tolosa">Eduardo Tolosa</name></author><author><name sortKey="Gasser, Thomas" sort="Gasser, Thomas" uniqKey="Gasser T" first="Thomas" last="Gasser">Thomas Gasser</name></author><author><name sortKey="Holton, Janice L" sort="Holton, Janice L" uniqKey="Holton J" first="Janice L" last="Holton">Janice L. Holton</name></author><author><name sortKey="Revesz, Tamas" sort="Revesz, Tamas" uniqKey="Revesz T" first="Tamas" last="Revesz">Tamas Revesz</name></author><author><name sortKey="Goldstein, David B" sort="Goldstein, David B" uniqKey="Goldstein D" first="David B" last="Goldstein">David B. Goldstein</name></author><author><name sortKey="Lees, Andrew J" sort="Lees, Andrew J" uniqKey="Lees A" first="Andrew J" last="Lees">Andrew J. Lees</name></author><author><name sortKey="Wood, Nicholas W" sort="Wood, Nicholas W" uniqKey="Wood N" first="Nicholas W" last="Wood">Nicholas W. Wood</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2005">2005</date><idno type="doi">10.1002/mds.20575</idno><idno type="RBID">pubmed:16007636</idno><idno type="pmid">16007636</idno><idno type="wicri:Area/PubMed/Corpus">002F88</idno><idno type="wicri:Area/PubMed/Curation">002F88</idno></publicationStmt><sourceDesc><biblStruct><analytic><title 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><nlm:affiliation>Department of Molecular Neuroscience, Institute of Neurology, Queen Square, London United Kingdom.</nlm:affiliation><wicri:noCountry code="subField">London United Kingdom</wicri:noCountry></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></author><author><name sortKey="Quinn, Niall" sort="Quinn, Niall" uniqKey="Quinn N" first="Niall" last="Quinn">Niall Quinn</name></author><author><name sortKey="Ahmadi, Kourosh R" sort="Ahmadi, Kourosh R" uniqKey="Ahmadi K" first="Kourosh R" last="Ahmadi">Kourosh R. Ahmadi</name></author><author><name sortKey="Ozawa, Tetsutaro" sort="Ozawa, Tetsutaro" uniqKey="Ozawa T" first="Tetsutaro" last="Ozawa">Tetsutaro Ozawa</name></author><author><name sortKey="Kamm, Christoph" sort="Kamm, Christoph" uniqKey="Kamm C" first="Christoph" last="Kamm">Christoph Kamm</name></author><author><name sortKey="Wullner, Ullrich" sort="Wullner, Ullrich" uniqKey="Wullner U" first="Ullrich" last="Wullner">Ullrich Wullner</name></author><author><name sortKey="Oertel, Wolfgang H" sort="Oertel, Wolfgang H" uniqKey="Oertel W" first="Wolfgang H" last="Oertel">Wolfgang H. Oertel</name></author><author><name sortKey="Burk, Katrin" sort="Burk, Katrin" uniqKey="Burk K" first="Katrin" last="Burk">Katrin Burk</name></author><author><name sortKey="Dupont, Erik" sort="Dupont, Erik" uniqKey="Dupont E" first="Erik" last="Dupont">Erik Dupont</name></author><author><name sortKey="Pellecchia, Maria T" sort="Pellecchia, Maria T" uniqKey="Pellecchia M" first="Maria T" last="Pellecchia">Maria T. Pellecchia</name></author><author><name sortKey="Tolosa, Eduardo" sort="Tolosa, Eduardo" uniqKey="Tolosa E" first="Eduardo" last="Tolosa">Eduardo Tolosa</name></author><author><name sortKey="Gasser, Thomas" sort="Gasser, Thomas" uniqKey="Gasser T" first="Thomas" last="Gasser">Thomas Gasser</name></author><author><name sortKey="Holton, Janice L" sort="Holton, Janice L" uniqKey="Holton J" first="Janice L" last="Holton">Janice L. Holton</name></author><author><name sortKey="Revesz, Tamas" sort="Revesz, Tamas" uniqKey="Revesz T" first="Tamas" last="Revesz">Tamas Revesz</name></author><author><name sortKey="Goldstein, David B" sort="Goldstein, David B" uniqKey="Goldstein D" first="David B" last="Goldstein">David B. Goldstein</name></author><author><name sortKey="Lees, Andrew J" sort="Lees, Andrew J" uniqKey="Lees A" first="Andrew J" last="Lees">Andrew J. Lees</name></author><author><name sortKey="Wood, Nicholas W" sort="Wood, Nicholas W" uniqKey="Wood N" first="Nicholas W" last="Wood">Nicholas W. Wood</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="ISSN">0885-3185</idno><imprint><date when="2005" type="published">2005</date></imprint></series></biblStruct></sourceDesc></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>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>Polymorphism, Single Nucleotide (genetics)</term><term>Ubiquitin Thiolesterase (genetics)</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></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><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">16007636</PMID><DateCreated><Year>2005</Year><Month>10</Month><Day>11</Day></DateCreated><DateCompleted><Year>2006</Year><Month>02</Month><Day>16</Day></DateCompleted><DateRevised><Year>2012</Year><Month>01</Month><Day>13</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Print">0885-3185</ISSN><JournalIssue CitedMedium="Print"><Volume>20</Volume><Issue>10</Issue><PubDate><Year>2005</Year><Month>Oct</Month></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. Disord.</ISOAbbreviation></Journal><ArticleTitle>UCHL-1 gene in multiple system atrophy: a haplotype tagging approach.</ArticleTitle><Pagination><MedlinePgn>1338-43</MedlinePgn></Pagination><Abstract><AbstractText>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.</AbstractText><CopyrightInformation>Copyright (c) 2005 Movement Disorder Society.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Healy</LastName><ForeName>Daniel G</ForeName><Initials>DG</Initials><AffiliationInfo><Affiliation>Department of Molecular Neuroscience, Institute of Neurology, Queen Square, London United Kingdom.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Abou-Sleiman</LastName><ForeName>Patrick M</ForeName><Initials>PM</Initials></Author><Author ValidYN="Y"><LastName>Quinn</LastName><ForeName>Niall</ForeName><Initials>N</Initials></Author><Author ValidYN="Y"><LastName>Ahmadi</LastName><ForeName>Kourosh R</ForeName><Initials>KR</Initials></Author><Author ValidYN="Y"><LastName>Ozawa</LastName><ForeName>Tetsutaro</ForeName><Initials>T</Initials></Author><Author ValidYN="Y"><LastName>Kamm</LastName><ForeName>Christoph</ForeName><Initials>C</Initials></Author><Author ValidYN="Y"><LastName>Wullner</LastName><ForeName>Ullrich</ForeName><Initials>U</Initials></Author><Author ValidYN="Y"><LastName>Oertel</LastName><ForeName>Wolfgang H</ForeName><Initials>WH</Initials></Author><Author ValidYN="Y"><LastName>Burk</LastName><ForeName>Katrin</ForeName><Initials>K</Initials></Author><Author ValidYN="Y"><LastName>Dupont</LastName><ForeName>Erik</ForeName><Initials>E</Initials></Author><Author ValidYN="Y"><LastName>Pellecchia</LastName><ForeName>Maria T</ForeName><Initials>MT</Initials></Author><Author ValidYN="Y"><LastName>Tolosa</LastName><ForeName>Eduardo</ForeName><Initials>E</Initials></Author><Author ValidYN="Y"><LastName>Gasser</LastName><ForeName>Thomas</ForeName><Initials>T</Initials></Author><Author ValidYN="Y"><LastName>Holton</LastName><ForeName>Janice L</ForeName><Initials>JL</Initials></Author><Author ValidYN="Y"><LastName>Revesz</LastName><ForeName>Tamas</ForeName><Initials>T</Initials></Author><Author ValidYN="Y"><LastName>Goldstein</LastName><ForeName>David B</ForeName><Initials>DB</Initials></Author><Author ValidYN="Y"><LastName>Lees</LastName><ForeName>Andrew J</ForeName><Initials>AJ</Initials></Author><Author ValidYN="Y"><LastName>Wood</LastName><ForeName>Nicholas W</ForeName><Initials>NW</Initials></Author><Author ValidYN="Y"><CollectiveName>European MSA Study Group</CollectiveName></Author></AuthorList><Language>eng</Language><GrantList CompleteYN="Y"><Grant><GrantID>G-4062</GrantID><Agency>Parkinson's UK</Agency><Country>United Kingdom</Country></Grant></GrantList><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType></PublicationTypeList></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Mov Disord</MedlineTA><NlmUniqueID>8610688</NlmUniqueID><ISSNLinking>0885-3185</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>EC 3.1.2.15</RegistryNumber><NameOfSubstance UI="C482860">UCHL1 protein, human</NameOfSubstance></Chemical><Chemical><RegistryNumber>EC 3.1.2.15</RegistryNumber><NameOfSubstance UI="D043222">Ubiquitin Thiolesterase</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000328">Adult</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000368">Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000369">Aged, 80 and over</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D020224">Expressed Sequence Tags</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000378">metabolism</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005260">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="Y" UI="D015723">Gene Library</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005838">Genotype</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D006239">Haplotypes</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D015810">Linkage Disequilibrium</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008297">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008875">Middle Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D019578">Multiple System Atrophy</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName><QualifierName MajorTopicYN="Y" UI="Q000378">metabolism</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D020641">Polymorphism, Single Nucleotide</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D043222">Ubiquitin Thiolesterase</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>2005</Year><Month>7</Month><Day>12</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2006</Year><Month>2</Month><Day>17</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2005</Year><Month>7</Month><Day>12</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="doi">10.1002/mds.20575</ArticleId><ArticleId IdType="pubmed">16007636</ArticleId></ArticleIdList></PubmedData></pubmed></record>Pour manipuler ce document sous Unix (Dilib)
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