Association between the extended tau haplotype and frontotemporal dementia.
Identifieur interne : 001143 ( PubMed/Curation ); précédent : 001142; suivant : 001144Association between the extended tau haplotype and frontotemporal dementia.
Auteurs : Patrice Verpillat [France] ; Agnès Camuzat ; Didier Hannequin ; Catherine Thomas-Anterion ; Michèle Puel ; Serge Belliard ; Bruno Dubois ; Mira Didic ; Bernard-François Michel ; Lucette Lacomblez ; Olivier Moreaud ; François Sellal ; Véronique Golfier ; Dominique Campion ; Françoise Clerget-Darpoux ; Alexis BriceSource :
- Archives of neurology [ 0003-9942 ] ; 2002.
English descriptors
- KwdEn :
- MESH :
- chemical , genetics : tau Proteins.
- genetics : Dementia, Haplotypes.
- Adult, Aged, Case-Control Studies, Confidence Intervals, Female, Genotype, Humans, Male, Middle Aged, Multivariate Analysis, Odds Ratio.
Abstract
Recent studies have shown an association between an extended tau haplotype (H1) that covers the entire human tau gene and progressive supranuclear palsy or, more inconsistently, other neurodegenerative disorders, such as corticobasal degeneration, Parkinson disease, Alzheimer disease, and frontotemporal dementia (FTD). In addition, disease-causing mutations in the tau gene on chromosome 17 have been detected in some families with autosomal dominant FTD and parkinsonism. In FTD, the pathological accumulation of the microtubule-associated protein tau suggests that the tau gene may be a genetic risk factor for this disorder.
PubMed: 12056929
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Puel</name></author><author><name sortKey="Belliard, Serge" sort="Belliard, Serge" uniqKey="Belliard S" first="Serge" last="Belliard">Serge Belliard</name></author><author><name sortKey="Dubois, Bruno" sort="Dubois, Bruno" uniqKey="Dubois B" first="Bruno" last="Dubois">Bruno Dubois</name></author><author><name sortKey="Didic, Mira" sort="Didic, Mira" uniqKey="Didic M" first="Mira" last="Didic">Mira Didic</name></author><author><name sortKey="Michel, Bernard Francois" sort="Michel, Bernard Francois" uniqKey="Michel B" first="Bernard-François" last="Michel">Bernard-François Michel</name></author><author><name sortKey="Lacomblez, Lucette" sort="Lacomblez, Lucette" uniqKey="Lacomblez L" first="Lucette" last="Lacomblez">Lucette Lacomblez</name></author><author><name sortKey="Moreaud, Olivier" sort="Moreaud, Olivier" uniqKey="Moreaud O" first="Olivier" last="Moreaud">Olivier Moreaud</name></author><author><name sortKey="Sellal, Francois" sort="Sellal, Francois" uniqKey="Sellal F" first="François" last="Sellal">François Sellal</name></author><author><name sortKey="Golfier, Veronique" sort="Golfier, Veronique" uniqKey="Golfier V" first="Véronique" last="Golfier">Véronique Golfier</name></author><author><name sortKey="Campion, Dominique" sort="Campion, Dominique" uniqKey="Campion D" first="Dominique" last="Campion">Dominique Campion</name></author><author><name sortKey="Clerget Darpoux, Francoise" sort="Clerget Darpoux, Francoise" uniqKey="Clerget Darpoux F" first="Françoise" last="Clerget-Darpoux">Françoise Clerget-Darpoux</name></author><author><name sortKey="Brice, Alexis" sort="Brice, Alexis" uniqKey="Brice A" first="Alexis" last="Brice">Alexis Brice</name></author></analytic><series><title level="j">Archives of neurology</title><idno type="ISSN">0003-9942</idno><imprint><date when="2002" type="published">2002</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Aged</term><term>Case-Control Studies</term><term>Confidence Intervals</term><term>Dementia (genetics)</term><term>Female</term><term>Genotype</term><term>Haplotypes (genetics)</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Multivariate Analysis</term><term>Odds Ratio</term><term>tau Proteins (genetics)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>tau Proteins</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Dementia</term><term>Haplotypes</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Aged</term><term>Case-Control Studies</term><term>Confidence Intervals</term><term>Female</term><term>Genotype</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Multivariate Analysis</term><term>Odds Ratio</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Recent studies have shown an association between an extended tau haplotype (H1) that covers the entire human tau gene and progressive supranuclear palsy or, more inconsistently, other neurodegenerative disorders, such as corticobasal degeneration, Parkinson disease, Alzheimer disease, and frontotemporal dementia (FTD). In addition, disease-causing mutations in the tau gene on chromosome 17 have been detected in some families with autosomal dominant FTD and parkinsonism. In FTD, the pathological accumulation of the microtubule-associated protein tau suggests that the tau gene may be a genetic risk factor for this disorder.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">12056929</PMID><DateCreated><Year>2002</Year><Month>06</Month><Day>11</Day></DateCreated><DateCompleted><Year>2002</Year><Month>07</Month><Day>01</Day></DateCompleted><DateRevised><Year>2006</Year><Month>11</Month><Day>15</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Print">0003-9942</ISSN><JournalIssue CitedMedium="Print"><Volume>59</Volume><Issue>6</Issue><PubDate><Year>2002</Year><Month>Jun</Month></PubDate></JournalIssue><Title>Archives of neurology</Title><ISOAbbreviation>Arch. Neurol.</ISOAbbreviation></Journal><ArticleTitle>Association between the extended tau haplotype and frontotemporal dementia.</ArticleTitle><Pagination><MedlinePgn>935-9</MedlinePgn></Pagination><Abstract><AbstractText Label="BACKGROUND" NlmCategory="BACKGROUND">Recent studies have shown an association between an extended tau haplotype (H1) that covers the entire human tau gene and progressive supranuclear palsy or, more inconsistently, other neurodegenerative disorders, such as corticobasal degeneration, Parkinson disease, Alzheimer disease, and frontotemporal dementia (FTD). In addition, disease-causing mutations in the tau gene on chromosome 17 have been detected in some families with autosomal dominant FTD and parkinsonism. In FTD, the pathological accumulation of the microtubule-associated protein tau suggests that the tau gene may be a genetic risk factor for this disorder.</AbstractText><AbstractText Label="OBJECTIVE" NlmCategory="OBJECTIVE">To confirm or refute the association between the H1 haplotype or the H1H1 genotype of the tau gene and FTD.</AbstractText><AbstractText Label="DESIGN" NlmCategory="METHODS">Case-control study.</AbstractText><AbstractText Label="SETTING" NlmCategory="METHODS">Neurology departments of 12 French university hospitals.</AbstractText><AbstractText Label="PARTICIPANTS" NlmCategory="METHODS">One hundred unrelated patients with FTD and 79 controls.</AbstractText><AbstractText Label="METHODS" NlmCategory="METHODS">Tau genotype (contiguous polymorphisms in exons 1, 7, and 13 and in intron 9 used to reconstruct the extended haplotypes H1 and H2). Clinical examination, psychometric testing, laboratory tests, computed tomography and magnetic resonance imaging, single-photon emission computed tomography, and electroencephalography for patients with FTD.</AbstractText><AbstractText Label="RESULTS" NlmCategory="RESULTS">The H1H1 genotype was significantly overrepresented in patients with FTD compared with controls (62% vs 46%; P=.01, 1-sided; odds ratio adjusted for age and sex, 1.95). After stratification according to apolipoprotein E (APOE) genotype, we found a significant interaction between APOE and tau genotypes (P=.03).</AbstractText><AbstractText Label="CONCLUSIONS" NlmCategory="CONCLUSIONS">This study of the largest series of patients with FTD confirms the primary role of tau in FTD and establishes that the H1 haplotype of the tau gene and the E2 allele of APOE interact by an unknown mechanism that increases the risk of FTD.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Verpillat</LastName><ForeName>Patrice</ForeName><Initials>P</Initials><AffiliationInfo><Affiliation>Département d'Epidémiologie, de Biostatistique, et de Recherche Clinique, Hôpital Bichat-Claude Bernard, 46 rue Henri Huchard, 75877 Paris CEDEX 18, France. patrice.verpillat@bch.ap-hop-paris.fr</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Camuzat</LastName><ForeName>Agnès</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Hannequin</LastName><ForeName>Didier</ForeName><Initials>D</Initials></Author><Author ValidYN="Y"><LastName>Thomas-Anterion</LastName><ForeName>Catherine</ForeName><Initials>C</Initials></Author><Author ValidYN="Y"><LastName>Puel</LastName><ForeName>Michèle</ForeName><Initials>M</Initials></Author><Author ValidYN="Y"><LastName>Belliard</LastName><ForeName>Serge</ForeName><Initials>S</Initials></Author><Author ValidYN="Y"><LastName>Dubois</LastName><ForeName>Bruno</ForeName><Initials>B</Initials></Author><Author ValidYN="Y"><LastName>Didic</LastName><ForeName>Mira</ForeName><Initials>M</Initials></Author><Author ValidYN="Y"><LastName>Michel</LastName><ForeName>Bernard-François</ForeName><Initials>BF</Initials></Author><Author ValidYN="Y"><LastName>Lacomblez</LastName><ForeName>Lucette</ForeName><Initials>L</Initials></Author><Author ValidYN="Y"><LastName>Moreaud</LastName><ForeName>Olivier</ForeName><Initials>O</Initials></Author><Author ValidYN="Y"><LastName>Sellal</LastName><ForeName>François</ForeName><Initials>F</Initials></Author><Author ValidYN="Y"><LastName>Golfier</LastName><ForeName>Véronique</ForeName><Initials>V</Initials></Author><Author ValidYN="Y"><LastName>Campion</LastName><ForeName>Dominique</ForeName><Initials>D</Initials></Author><Author ValidYN="Y"><LastName>Clerget-Darpoux</LastName><ForeName>Françoise</ForeName><Initials>F</Initials></Author><Author ValidYN="Y"><LastName>Brice</LastName><ForeName>Alexis</ForeName><Initials>A</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>Arch Neurol</MedlineTA><NlmUniqueID>0372436</NlmUniqueID><ISSNLinking>0003-9942</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D016875">tau Proteins</NameOfSubstance></Chemical></ChemicalList><CitationSubset>AIM</CitationSubset><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName UI="D000328" MajorTopicYN="N">Adult</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D000368" MajorTopicYN="N">Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D016022" MajorTopicYN="N">Case-Control Studies</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D016001" MajorTopicYN="N">Confidence Intervals</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D003704" MajorTopicYN="N">Dementia</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D005260" MajorTopicYN="N">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D005838" MajorTopicYN="N">Genotype</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D006239" MajorTopicYN="N">Haplotypes</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></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="D015999" MajorTopicYN="N">Multivariate Analysis</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D016017" MajorTopicYN="N">Odds Ratio</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D016875" MajorTopicYN="N">tau Proteins</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>2002</Year><Month>6</Month><Day>12</Day><Hour>10</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2002</Year><Month>7</Month><Day>2</Day><Hour>10</Hour><Minute>1</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2002</Year><Month>6</Month><Day>12</Day><Hour>10</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">12056929</ArticleId><ArticleId IdType="pii">noc10347</ArticleId></ArticleIdList></PubmedData></pubmed></record>Pour manipuler ce document sous Unix (Dilib)
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