No genetic association of the ubiquitin carboxy-terminal hydrolase-L1 gene S18Y polymorphism with familial Parkinson's disease.
Identifieur interne : 001274 ( PubMed/Corpus ); précédent : 001273; suivant : 001275No genetic association of the ubiquitin carboxy-terminal hydrolase-L1 gene S18Y polymorphism with familial Parkinson's disease.
Auteurs : C. Levecque ; A. Destée ; V. Mouroux ; E. Becquet ; L. Defebvre ; P. Amouyel ; M C Chartier-HarlinSource :
- Journal of neural transmission (Vienna, Austria : 1996) [ 0300-9564 ] ; 2001.
English descriptors
- KwdEn :
- Age of Onset, Aged, DNA Mutational Analysis, Female, France, Gene Frequency, Genetic Testing, Genotype, Humans, Male, Middle Aged, Mutation (genetics), Parkinson Disease (enzymology), Parkinson Disease (genetics), Parkinson Disease (physiopathology), Polymorphism, Genetic (genetics), Sex Factors, Thiolester Hydrolases (genetics), Thiolester Hydrolases (metabolism), Ubiquitin Thiolesterase.
- MESH :
- chemical , genetics : Thiolester Hydrolases.
- enzymology : Parkinson Disease.
- genetics : Mutation, Parkinson Disease, Polymorphism, Genetic.
- chemical , metabolism : Thiolester Hydrolases.
- physiopathology : Parkinson Disease.
- Age of Onset, Aged, DNA Mutational Analysis, Female, France, Gene Frequency, Genetic Testing, Genotype, Humans, Male, Middle Aged, Sex Factors, Ubiquitin Thiolesterase.
Abstract
Parkinson's disease (PD) is a neurodegenerative disorder for which genetic susceptibility has been documented in sporadic and familial cases. Recently, a polymorphism located in exon 3 at codon 18 (S18Y) of the Ubiquitin Carboxy-terminal Hydrolase-L1 (UCH-L1) gene has been associated with the disease in 2 populations of German origin and also in a Japanese population. We tested the impact of this polymorphism in a French sample of familial PD patients (n = 114) and controls (n = 93). No association was observed, indicating that this polymorphism did not confer susceptibility for familial PD in our population, even among the youngest age of onset group. This observation suggests that the previous positive results obtained may reflect mechanisms restricted to the sporadic form of the disease or to a founder effect of the disease susceptibility.
DOI: 10.1007/s007020170017
PubMed: 11716150
Links to Exploration step
pubmed:11716150Le document en format XML
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Defebvre</name></author><author><name sortKey="Amouyel, P" sort="Amouyel, P" uniqKey="Amouyel P" first="P" last="Amouyel">P. Amouyel</name></author><author><name sortKey="Chartier Harlin, M C" sort="Chartier Harlin, M C" uniqKey="Chartier Harlin M" first="M C" last="Chartier-Harlin">M C Chartier-Harlin</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2001">2001</date><idno type="RBID">pubmed:11716150</idno><idno type="pmid">11716150</idno><idno type="doi">10.1007/s007020170017</idno><idno type="wicri:Area/PubMed/Corpus">001274</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">001274</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">No genetic association of the ubiquitin carboxy-terminal hydrolase-L1 gene S18Y polymorphism with familial Parkinson's disease.</title><author><name sortKey="Levecque, C" sort="Levecque, C" uniqKey="Levecque C" first="C" last="Levecque">C. Levecque</name><affiliation><nlm:affiliation>INSERM 508, Institut Pasteur de Lille, France.</nlm:affiliation></affiliation></author><author><name sortKey="Destee, A" sort="Destee, A" uniqKey="Destee A" first="A" last="Destée">A. Destée</name></author><author><name sortKey="Mouroux, V" sort="Mouroux, V" uniqKey="Mouroux V" first="V" last="Mouroux">V. Mouroux</name></author><author><name sortKey="Becquet, E" sort="Becquet, E" uniqKey="Becquet E" first="E" last="Becquet">E. Becquet</name></author><author><name sortKey="Defebvre, L" sort="Defebvre, L" uniqKey="Defebvre L" first="L" last="Defebvre">L. Defebvre</name></author><author><name sortKey="Amouyel, P" sort="Amouyel, P" uniqKey="Amouyel P" first="P" last="Amouyel">P. Amouyel</name></author><author><name sortKey="Chartier Harlin, M C" sort="Chartier Harlin, M C" uniqKey="Chartier Harlin M" first="M C" last="Chartier-Harlin">M C Chartier-Harlin</name></author></analytic><series><title level="j">Journal of neural transmission (Vienna, Austria : 1996)</title><idno type="ISSN">0300-9564</idno><imprint><date when="2001" type="published">2001</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Age of Onset</term><term>Aged</term><term>DNA Mutational Analysis</term><term>Female</term><term>France</term><term>Gene Frequency</term><term>Genetic Testing</term><term>Genotype</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Mutation (genetics)</term><term>Parkinson Disease (enzymology)</term><term>Parkinson Disease (genetics)</term><term>Parkinson Disease (physiopathology)</term><term>Polymorphism, Genetic (genetics)</term><term>Sex Factors</term><term>Thiolester Hydrolases (genetics)</term><term>Thiolester Hydrolases (metabolism)</term><term>Ubiquitin Thiolesterase</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Thiolester Hydrolases</term></keywords><keywords scheme="MESH" qualifier="enzymology" xml:lang="en"><term>Parkinson Disease</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Mutation</term><term>Parkinson Disease</term><term>Polymorphism, Genetic</term></keywords><keywords scheme="MESH" type="chemical" qualifier="metabolism" xml:lang="en"><term>Thiolester Hydrolases</term></keywords><keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Parkinson Disease</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Age of Onset</term><term>Aged</term><term>DNA Mutational Analysis</term><term>Female</term><term>France</term><term>Gene Frequency</term><term>Genetic Testing</term><term>Genotype</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Sex Factors</term><term>Ubiquitin Thiolesterase</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Parkinson's disease (PD) is a neurodegenerative disorder for which genetic susceptibility has been documented in sporadic and familial cases. Recently, a polymorphism located in exon 3 at codon 18 (S18Y) of the Ubiquitin Carboxy-terminal Hydrolase-L1 (UCH-L1) gene has been associated with the disease in 2 populations of German origin and also in a Japanese population. We tested the impact of this polymorphism in a French sample of familial PD patients (n = 114) and controls (n = 93). No association was observed, indicating that this polymorphism did not confer susceptibility for familial PD in our population, even among the youngest age of onset group. This observation suggests that the previous positive results obtained may reflect mechanisms restricted to the sporadic form of the disease or to a founder effect of the disease susceptibility.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">11716150</PMID><DateCreated><Year>2001</Year><Month>11</Month><Day>21</Day></DateCreated><DateCompleted><Year>2002</Year><Month>04</Month><Day>29</Day></DateCompleted><DateRevised><Year>2016</Year><Month>11</Month><Day>24</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Print">0300-9564</ISSN><JournalIssue CitedMedium="Print"><Volume>108</Volume><Issue>8-9</Issue><PubDate><Year>2001</Year></PubDate></JournalIssue><Title>Journal of neural transmission (Vienna, Austria : 1996)</Title><ISOAbbreviation>J Neural Transm (Vienna)</ISOAbbreviation></Journal><ArticleTitle>No genetic association of the ubiquitin carboxy-terminal hydrolase-L1 gene S18Y polymorphism with familial Parkinson's disease.</ArticleTitle><Pagination><MedlinePgn>979-84</MedlinePgn></Pagination><Abstract><AbstractText>Parkinson's disease (PD) is a neurodegenerative disorder for which genetic susceptibility has been documented in sporadic and familial cases. Recently, a polymorphism located in exon 3 at codon 18 (S18Y) of the Ubiquitin Carboxy-terminal Hydrolase-L1 (UCH-L1) gene has been associated with the disease in 2 populations of German origin and also in a Japanese population. We tested the impact of this polymorphism in a French sample of familial PD patients (n = 114) and controls (n = 93). No association was observed, indicating that this polymorphism did not confer susceptibility for familial PD in our population, even among the youngest age of onset group. This observation suggests that the previous positive results obtained may reflect mechanisms restricted to the sporadic form of the disease or to a founder effect of the disease susceptibility.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Levecque</LastName><ForeName>C</ForeName><Initials>C</Initials><AffiliationInfo><Affiliation>INSERM 508, Institut Pasteur de Lille, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Destée</LastName><ForeName>A</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Mouroux</LastName><ForeName>V</ForeName><Initials>V</Initials></Author><Author ValidYN="Y"><LastName>Becquet</LastName><ForeName>E</ForeName><Initials>E</Initials></Author><Author ValidYN="Y"><LastName>Defebvre</LastName><ForeName>L</ForeName><Initials>L</Initials></Author><Author ValidYN="Y"><LastName>Amouyel</LastName><ForeName>P</ForeName><Initials>P</Initials></Author><Author ValidYN="Y"><LastName>Chartier-Harlin</LastName><ForeName>M C</ForeName><Initials>MC</Initials></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType></PublicationTypeList></Article><MedlineJournalInfo><Country>Austria</Country><MedlineTA>J Neural Transm (Vienna)</MedlineTA><NlmUniqueID>9702341</NlmUniqueID><ISSNLinking>0300-9564</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>EC 3.1.2.-</RegistryNumber><NameOfSubstance UI="D013869">Thiolester Hydrolases</NameOfSubstance></Chemical><Chemical><RegistryNumber>EC 3.4.19.12</RegistryNumber><NameOfSubstance UI="D043222">Ubiquitin Thiolesterase</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName UI="D017668" MajorTopicYN="N">Age of Onset</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D000368" MajorTopicYN="N">Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D004252" MajorTopicYN="N">DNA Mutational Analysis</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D005260" MajorTopicYN="N">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D005602" MajorTopicYN="N">France</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D005787" MajorTopicYN="N">Gene Frequency</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D005820" MajorTopicYN="N">Genetic Testing</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D005838" MajorTopicYN="N">Genotype</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008297" MajorTopicYN="N">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008875" MajorTopicYN="N">Middle Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D009154" MajorTopicYN="N">Mutation</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D010300" MajorTopicYN="N">Parkinson Disease</DescriptorName><QualifierName UI="Q000201" MajorTopicYN="Y">enzymology</QualifierName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName><QualifierName UI="Q000503" MajorTopicYN="N">physiopathology</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D011110" MajorTopicYN="N">Polymorphism, Genetic</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D012737" MajorTopicYN="N">Sex Factors</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D013869" MajorTopicYN="N">Thiolester Hydrolases</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName><QualifierName UI="Q000378" MajorTopicYN="N">metabolism</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D043222" MajorTopicYN="N">Ubiquitin Thiolesterase</DescriptorName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>2001</Year><Month>11</Month><Day>22</Day><Hour>10</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2002</Year><Month>5</Month><Day>1</Day><Hour>10</Hour><Minute>1</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2001</Year><Month>11</Month><Day>22</Day><Hour>10</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">11716150</ArticleId><ArticleId IdType="doi">10.1007/s007020170017</ArticleId></ArticleIdList></PubmedData></pubmed></record>Pour manipuler ce document sous Unix (Dilib)
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