Further extension of the H1 haplotype associated with progressive supranuclear palsy.
Identifieur interne : 003A52 ( PubMed/Curation ); précédent : 003A51; suivant : 003A53Further extension of the H1 haplotype associated with progressive supranuclear palsy.
Auteurs : Pau Pastor [Espagne] ; Mario Ezquerra ; Eduardo Tolosa ; Esteban Mu Oz ; María José Martí ; Francesc Valldeoriola ; José Luís Molinuevo ; Matilde Calopa ; Rafael OlivaSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2002.
English descriptors
- KwdEn :
- Aged, Case-Control Studies, Chromosomes, Human, Pair 17, Female, Genetic Markers, Genetic Predisposition to Disease, Haplotypes (genetics), Humans, Male, Microsatellite Repeats, Mutation, Polymerase Chain Reaction, Supranuclear Palsy, Progressive (epidemiology), Supranuclear Palsy, Progressive (genetics), tau Proteins (genetics).
- MESH :
- chemical , genetics : tau Proteins.
- chemical : Genetic Markers.
- epidemiology : Supranuclear Palsy, Progressive.
- genetics : Haplotypes, Supranuclear Palsy, Progressive.
- Aged, Case-Control Studies, Chromosomes, Human, Pair 17, Female, Genetic Predisposition to Disease, Humans, Male, Microsatellite Repeats, Mutation, Polymerase Chain Reaction.
Abstract
The recent finding of disequilibrium among several polymorphisms along the tau gene and the strong association of one of the two haplotypes formed by these polymorphisms (H1) with progressive supranuclear palsy (PSP) suggests that a single allele in or near the tau gene at 17q21 is responsible for increased risk in most of the PSP cases. We sought to determine whether mutations in the tau gene are responsible for the disease in 45 sporadic PSP patients. Furthermore, we analyzed some markers located in the common region of linkage (D17S800-D17S791), associated with some cases of familial frontotemporal dementia (FTDP-17), and the SNPs rs1816 and rs937 close to the tau gene, to determine their possible association with sporadic PSP. We did not find pathogenic mutations in exons 9, 10, 12, or 13 of the tau gene, indicating that tau mutations in both the splice-site region of the exon 10 and in the microtubule-binding region of tau gene are not a cause of PSP in this study group. We found significant overrepresentation of the haplotypes H1, extended up to the promoter of the tau gene (H1P), in PSP patients as compared with controls. In addition, a significant overrepresentation of the D17S810 2/2 and 3/2 genotypes, of the SNP rs1816 A/A, and of the SNP rs937 delG/delG genotypes was detected in PSP, further extending the haplotype described previously. These results are consistent with the hypothesis that a change either in the 5' or in the 3' flanking regions of the tau gene, or even other genes contained in the H1E haplotype, could increase the genetic susceptibility to PSP.
DOI: 10.1002/mds.10076
PubMed: 12112206
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Hospital Clínic, IDIBAPS, Barcelona</wicri:regionArea></affiliation></author><author><name sortKey="Ezquerra, Mario" sort="Ezquerra, Mario" uniqKey="Ezquerra M" first="Mario" last="Ezquerra">Mario Ezquerra</name></author><author><name sortKey="Tolosa, Eduardo" sort="Tolosa, Eduardo" uniqKey="Tolosa E" first="Eduardo" last="Tolosa">Eduardo Tolosa</name></author><author><name sortKey="Mu Oz, Esteban" sort="Mu Oz, Esteban" uniqKey="Mu Oz E" first="Esteban" last="Mu Oz">Esteban Mu Oz</name></author><author><name sortKey="Marti, Maria Jose" sort="Marti, Maria Jose" uniqKey="Marti M" first="María José" last="Martí">María José Martí</name></author><author><name sortKey="Valldeoriola, Francesc" sort="Valldeoriola, Francesc" uniqKey="Valldeoriola F" first="Francesc" last="Valldeoriola">Francesc Valldeoriola</name></author><author><name sortKey="Molinuevo, Jose Luis" sort="Molinuevo, Jose Luis" uniqKey="Molinuevo J" first="José Luís" last="Molinuevo">José Luís Molinuevo</name></author><author><name sortKey="Calopa, Matilde" sort="Calopa, Matilde" uniqKey="Calopa M" first="Matilde" last="Calopa">Matilde Calopa</name></author><author><name sortKey="Oliva, Rafael" sort="Oliva, Rafael" uniqKey="Oliva R" first="Rafael" last="Oliva">Rafael Oliva</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2002">2002</date><idno type="RBID">pubmed:12112206</idno><idno type="pmid">12112206</idno><idno type="doi">10.1002/mds.10076</idno><idno type="wicri:Area/PubMed/Corpus">003A52</idno><idno type="wicri:Area/PubMed/Curation">003A52</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Further extension of the H1 haplotype associated with progressive supranuclear palsy.</title><author><name sortKey="Pastor, Pau" sort="Pastor, Pau" uniqKey="Pastor P" first="Pau" last="Pastor">Pau Pastor</name><affiliation wicri:level="1"><nlm:affiliation>Parkinson's Disease and Movement Disorders Unit, Neurology Service, Institut Clínic de Malalties del Sistema Nerviós. Hospital Clínic, IDIBAPS, Barcelona, Spain. pastorp@icarus.wustl.edu</nlm:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>Parkinson's Disease and Movement Disorders Unit, Neurology Service, Institut Clínic de Malalties del Sistema Nerviós. 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We sought to determine whether mutations in the tau gene are responsible for the disease in 45 sporadic PSP patients. Furthermore, we analyzed some markers located in the common region of linkage (D17S800-D17S791), associated with some cases of familial frontotemporal dementia (FTDP-17), and the SNPs rs1816 and rs937 close to the tau gene, to determine their possible association with sporadic PSP. We did not find pathogenic mutations in exons 9, 10, 12, or 13 of the tau gene, indicating that tau mutations in both the splice-site region of the exon 10 and in the microtubule-binding region of tau gene are not a cause of PSP in this study group. We found significant overrepresentation of the haplotypes H1, extended up to the promoter of the tau gene (H1P), in PSP patients as compared with controls. In addition, a significant overrepresentation of the D17S810 2/2 and 3/2 genotypes, of the SNP rs1816 A/A, and of the SNP rs937 delG/delG genotypes was detected in PSP, further extending the haplotype described previously. These results are consistent with the hypothesis that a change either in the 5' or in the 3' flanking regions of the tau gene, or even other genes contained in the H1E haplotype, could increase the genetic susceptibility to PSP.</div></front></TEI><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">12112206</PMID><DateCreated><Year>2002</Year><Month>07</Month><Day>11</Day></DateCreated><DateCompleted><Year>2002</Year><Month>09</Month><Day>16</Day></DateCompleted><DateRevised><Year>2006</Year><Month>11</Month><Day>15</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Print">0885-3185</ISSN><JournalIssue CitedMedium="Print"><Volume>17</Volume><Issue>3</Issue><PubDate><Year>2002</Year><Month>May</Month></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. Disord.</ISOAbbreviation></Journal><ArticleTitle>Further extension of the H1 haplotype associated with progressive supranuclear palsy.</ArticleTitle><Pagination><MedlinePgn>550-6</MedlinePgn></Pagination><Abstract><AbstractText>The recent finding of disequilibrium among several polymorphisms along the tau gene and the strong association of one of the two haplotypes formed by these polymorphisms (H1) with progressive supranuclear palsy (PSP) suggests that a single allele in or near the tau gene at 17q21 is responsible for increased risk in most of the PSP cases. We sought to determine whether mutations in the tau gene are responsible for the disease in 45 sporadic PSP patients. Furthermore, we analyzed some markers located in the common region of linkage (D17S800-D17S791), associated with some cases of familial frontotemporal dementia (FTDP-17), and the SNPs rs1816 and rs937 close to the tau gene, to determine their possible association with sporadic PSP. We did not find pathogenic mutations in exons 9, 10, 12, or 13 of the tau gene, indicating that tau mutations in both the splice-site region of the exon 10 and in the microtubule-binding region of tau gene are not a cause of PSP in this study group. We found significant overrepresentation of the haplotypes H1, extended up to the promoter of the tau gene (H1P), in PSP patients as compared with controls. In addition, a significant overrepresentation of the D17S810 2/2 and 3/2 genotypes, of the SNP rs1816 A/A, and of the SNP rs937 delG/delG genotypes was detected in PSP, further extending the haplotype described previously. These results are consistent with the hypothesis that a change either in the 5' or in the 3' flanking regions of the tau gene, or even other genes contained in the H1E haplotype, could increase the genetic susceptibility to PSP.</AbstractText><CopyrightInformation>Copyright 2002 Movement Disorder Society</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Pastor</LastName><ForeName>Pau</ForeName><Initials>P</Initials><AffiliationInfo><Affiliation>Parkinson's Disease and Movement Disorders Unit, Neurology Service, Institut Clínic de Malalties del Sistema Nerviós. Hospital Clínic, IDIBAPS, Barcelona, Spain. pastorp@icarus.wustl.edu</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Ezquerra</LastName><ForeName>Mario</ForeName><Initials>M</Initials></Author><Author ValidYN="Y"><LastName>Tolosa</LastName><ForeName>Eduardo</ForeName><Initials>E</Initials></Author><Author ValidYN="Y"><LastName>Muñoz</LastName><ForeName>Esteban</ForeName><Initials>E</Initials></Author><Author ValidYN="Y"><LastName>Martí</LastName><ForeName>María José</ForeName><Initials>MJ</Initials></Author><Author ValidYN="Y"><LastName>Valldeoriola</LastName><ForeName>Francesc</ForeName><Initials>F</Initials></Author><Author ValidYN="Y"><LastName>Molinuevo</LastName><ForeName>José Luís</ForeName><Initials>JL</Initials></Author><Author ValidYN="Y"><LastName>Calopa</LastName><ForeName>Matilde</ForeName><Initials>M</Initials></Author><Author ValidYN="Y"><LastName>Oliva</LastName><ForeName>Rafael</ForeName><Initials>R</Initials></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D003160">Comparative Study</PublicationType><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>0</RegistryNumber><NameOfSubstance UI="D005819">Genetic Markers</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D016875">tau Proteins</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000368">Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D016022">Case-Control Studies</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D002886">Chromosomes, Human, Pair 17</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005260">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005819">Genetic Markers</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D020022">Genetic Predisposition to Disease</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="D008297">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D018895">Microsatellite Repeats</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D009154">Mutation</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D016133">Polymerase Chain Reaction</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D013494">Supranuclear Palsy, Progressive</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000453">epidemiology</QualifierName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D016875">tau Proteins</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>2002</Year><Month>7</Month><Day>12</Day><Hour>10</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2002</Year><Month>9</Month><Day>17</Day><Hour>10</Hour><Minute>1</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2002</Year><Month>7</Month><Day>12</Day><Hour>10</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">12112206</ArticleId><ArticleId IdType="doi">10.1002/mds.10076</ArticleId></ArticleIdList></PubmedData></pubmed></record>Pour manipuler ce document sous Unix (Dilib)
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