Further extension of the H1 haplotype associated with progressive supranuclear palsy
Identifieur interne : 006784 ( Main/Merge ); précédent : 006783; suivant : 006785Further extension of the H1 haplotype associated with progressive supranuclear palsy
Auteurs : Pau Pastor [Espagne] ; Mario Ezquerra [Espagne] ; Eduardo Tolosa [Espagne] ; Esteban Munoz [Espagne] ; Maria José Marti [Espagne] ; Francesc Valldeoriola [Espagne] ; José Luis Molinuevo [Espagne] ; Matilde Calopa [Espagne] ; Rafael Oliva [Espagne]Source :
- Movement disorders [ 0885-3185 ] ; 2002.
Descripteurs français
- Pascal (Inist)
- Wicri :
- topic : Homme.
English descriptors
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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 HIE haplotype, could increase the genetic susceptibility to PSP.
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last="Munoz">Esteban Munoz</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Parkinson's Disease and Movement Disorders Unit, Neurology Service, Institut Clínic de Malalties del Sistema Nerviós, Hospital Clínic, IDIBAPS</s1><s2>Barcelona</s2><s3>ESP</s3><sZ>1 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ></inist:fA14><country>Espagne</country><placeName><settlement type="city">Barcelone</settlement><region nuts="2" type="region">Catalogne</region></placeName></affiliation></author><author><name sortKey="Marti, Maria Jose" sort="Marti, Maria Jose" uniqKey="Marti M" first="Maria José" last="Marti">Maria José Marti</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Parkinson's Disease and Movement Disorders Unit, Neurology Service, Institut Clínic de Malalties del Sistema Nerviós, Hospital Clínic, IDIBAPS</s1><s2>Barcelona</s2><s3>ESP</s3><sZ>1 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 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Molinuevo</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Parkinson's Disease and Movement Disorders Unit, Neurology Service, Institut Clínic de Malalties del Sistema Nerviós, Hospital Clínic, IDIBAPS</s1><s2>Barcelona</s2><s3>ESP</s3><sZ>1 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ></inist:fA14><country>Espagne</country><placeName><settlement type="city">Barcelone</settlement><region nuts="2" type="region">Catalogne</region></placeName></affiliation></author><author><name sortKey="Calopa, Matilde" sort="Calopa, Matilde" uniqKey="Calopa M" first="Matilde" last="Calopa">Matilde Calopa</name><affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Neurology Service, Hospital de Bellvitge</s1><s2>Barcelona</s2><s3>ESP</s3><sZ>8 aut.</sZ></inist:fA14><country>Espagne</country><placeName><settlement type="city">Barcelone</settlement><region nuts="2" type="region">Catalogne</region></placeName></affiliation></author><author><name sortKey="Oliva, Rafael" sort="Oliva, Rafael" uniqKey="Oliva R" first="Rafael" last="Oliva">Rafael Oliva</name><affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Genetics Service, Hospital Clínic, IDIBAPS</s1><s2>Barcelona</s2><s3>ESP</s3><sZ>2 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>Espagne</country><placeName><settlement type="city">Barcelone</settlement><region nuts="2" type="region">Catalogne</region></placeName></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">INIST</idno><idno type="inist">02-0369764</idno><date when="2002">2002</date><idno type="stanalyst">PASCAL 02-0369764 INIST</idno><idno type="RBID">Pascal:02-0369764</idno><idno type="wicri:Area/PascalFrancis/Corpus">002732</idno><idno type="wicri:Area/PascalFrancis/Curation">000589</idno><idno type="wicri:Area/PascalFrancis/Checkpoint">002745</idno><idno type="wicri:doubleKey">0885-3185:2002:Pastor P:further:extension:of</idno><idno type="wicri:Area/Main/Merge">006784</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">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="3"><inist:fA14 i1="01"><s1>Parkinson's Disease and Movement Disorders Unit, Neurology Service, Institut Clínic de Malalties del Sistema Nerviós, Hospital Clínic, IDIBAPS</s1><s2>Barcelona</s2><s3>ESP</s3><sZ>1 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ></inist:fA14><country>Espagne</country><placeName><settlement type="city">Barcelone</settlement><region nuts="2" type="region">Catalogne</region></placeName></affiliation></author><author><name sortKey="Ezquerra, Mario" sort="Ezquerra, Mario" uniqKey="Ezquerra M" first="Mario" last="Ezquerra">Mario Ezquerra</name><affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Genetics Service, Hospital Clínic, IDIBAPS</s1><s2>Barcelona</s2><s3>ESP</s3><sZ>2 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>Espagne</country><placeName><settlement type="city">Barcelone</settlement><region nuts="2" type="region">Catalogne</region></placeName></affiliation></author><author><name sortKey="Tolosa, Eduardo" sort="Tolosa, Eduardo" uniqKey="Tolosa E" first="Eduardo" last="Tolosa">Eduardo Tolosa</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Parkinson's Disease and Movement Disorders Unit, Neurology Service, Institut Clínic de Malalties del Sistema Nerviós, Hospital Clínic, IDIBAPS</s1><s2>Barcelona</s2><s3>ESP</s3><sZ>1 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ></inist:fA14><country>Espagne</country><placeName><settlement type="city">Barcelone</settlement><region nuts="2" type="region">Catalogne</region></placeName></affiliation></author><author><name sortKey="Munoz, Esteban" sort="Munoz, Esteban" uniqKey="Munoz E" first="Esteban" last="Munoz">Esteban Munoz</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Parkinson's Disease and Movement Disorders Unit, Neurology Service, Institut Clínic de Malalties del Sistema Nerviós, Hospital Clínic, IDIBAPS</s1><s2>Barcelona</s2><s3>ESP</s3><sZ>1 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ></inist:fA14><country>Espagne</country><placeName><settlement type="city">Barcelone</settlement><region nuts="2" type="region">Catalogne</region></placeName></affiliation></author><author><name sortKey="Marti, Maria Jose" sort="Marti, Maria Jose" uniqKey="Marti M" first="Maria José" last="Marti">Maria José Marti</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Parkinson's Disease and Movement Disorders Unit, Neurology Service, Institut Clínic de Malalties del Sistema Nerviós, Hospital Clínic, IDIBAPS</s1><s2>Barcelona</s2><s3>ESP</s3><sZ>1 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ></inist:fA14><country>Espagne</country><placeName><settlement type="city">Barcelone</settlement><region nuts="2" type="region">Catalogne</region></placeName></affiliation></author><author><name sortKey="Valldeoriola, Francesc" sort="Valldeoriola, Francesc" uniqKey="Valldeoriola F" first="Francesc" last="Valldeoriola">Francesc Valldeoriola</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Parkinson's Disease and Movement Disorders Unit, Neurology Service, Institut Clínic de Malalties del Sistema Nerviós, Hospital Clínic, IDIBAPS</s1><s2>Barcelona</s2><s3>ESP</s3><sZ>1 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ></inist:fA14><country>Espagne</country><placeName><settlement type="city">Barcelone</settlement><region nuts="2" type="region">Catalogne</region></placeName></affiliation></author><author><name sortKey="Molinuevo, Jose Luis" sort="Molinuevo, Jose Luis" uniqKey="Molinuevo J" first="José Luis" last="Molinuevo">José Luis Molinuevo</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Parkinson's Disease and Movement Disorders Unit, Neurology Service, Institut Clínic de Malalties del Sistema Nerviós, Hospital Clínic, IDIBAPS</s1><s2>Barcelona</s2><s3>ESP</s3><sZ>1 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ></inist:fA14><country>Espagne</country><placeName><settlement type="city">Barcelone</settlement><region nuts="2" type="region">Catalogne</region></placeName></affiliation></author><author><name sortKey="Calopa, Matilde" sort="Calopa, Matilde" uniqKey="Calopa M" first="Matilde" last="Calopa">Matilde Calopa</name><affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Neurology Service, Hospital de Bellvitge</s1><s2>Barcelona</s2><s3>ESP</s3><sZ>8 aut.</sZ></inist:fA14><country>Espagne</country><placeName><settlement type="city">Barcelone</settlement><region nuts="2" type="region">Catalogne</region></placeName></affiliation></author><author><name sortKey="Oliva, Rafael" sort="Oliva, Rafael" uniqKey="Oliva R" first="Rafael" last="Oliva">Rafael Oliva</name><affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Genetics Service, Hospital Clínic, IDIBAPS</s1><s2>Barcelona</s2><s3>ESP</s3><sZ>2 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>Espagne</country><placeName><settlement type="city">Barcelone</settlement><region nuts="2" type="region">Catalogne</region></placeName></affiliation></author></analytic><series><title level="j" type="main">Movement disorders</title><title level="j" type="abbreviated">Mov. disord.</title><idno type="ISSN">0885-3185</idno><imprint><date when="2002">2002</date></imprint></series></biblStruct></sourceDesc><seriesStmt><title level="j" type="main">Movement disorders</title><title level="j" type="abbreviated">Mov. disord.</title><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Chromosome E17</term><term>Genetic determinism</term><term>Genotype</term><term>Haplotype</term><term>Human</term><term>Molecular biology</term><term>Mutation</term><term>Risk factor</term><term>Supranuclear ophthalmoplegia</term><term>Tau protein</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Ophtalmoplégie supranucléaire</term><term>Haplotype</term><term>Génotype</term><term>Protéine tau</term><term>Mutation</term><term>Chromosome E17</term><term>Facteur risque</term><term>Biologie moléculaire</term><term>Déterminisme génétique</term><term>Homme</term></keywords><keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Homme</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">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 HIE haplotype, could increase the genetic susceptibility to PSP.</div></front></TEI><affiliations><list><country><li>Espagne</li></country><region><li>Catalogne</li></region><settlement><li>Barcelone</li></settlement></list><tree><country name="Espagne"><region name="Catalogne"><name sortKey="Pastor, Pau" sort="Pastor, Pau" uniqKey="Pastor P" first="Pau" last="Pastor">Pau Pastor</name></region><name sortKey="Calopa, Matilde" sort="Calopa, Matilde" uniqKey="Calopa M" first="Matilde" last="Calopa">Matilde Calopa</name><name sortKey="Ezquerra, Mario" sort="Ezquerra, Mario" uniqKey="Ezquerra M" first="Mario" last="Ezquerra">Mario Ezquerra</name><name sortKey="Marti, Maria Jose" sort="Marti, Maria Jose" uniqKey="Marti M" first="Maria José" last="Marti">Maria José Marti</name><name sortKey="Molinuevo, Jose Luis" sort="Molinuevo, Jose Luis" uniqKey="Molinuevo J" first="José Luis" last="Molinuevo">José Luis Molinuevo</name><name sortKey="Munoz, Esteban" sort="Munoz, Esteban" uniqKey="Munoz E" first="Esteban" last="Munoz">Esteban Munoz</name><name sortKey="Oliva, Rafael" sort="Oliva, Rafael" uniqKey="Oliva R" first="Rafael" last="Oliva">Rafael Oliva</name><name sortKey="Tolosa, Eduardo" sort="Tolosa, Eduardo" uniqKey="Tolosa E" first="Eduardo" last="Tolosa">Eduardo Tolosa</name><name sortKey="Valldeoriola, Francesc" sort="Valldeoriola, Francesc" uniqKey="Valldeoriola F" first="Francesc" last="Valldeoriola">Francesc Valldeoriola</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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