MovDisordV3, Main, Exploration, bibRecord, 004447

Further extension of the H1 haplotype associated with progressive supranuclear palsy

Identifieur interne : 004447 ( Main/Exploration ); précédent : 004446; suivant : 004448

Further extension of the H1 haplotype associated with progressive supranuclear palsy

Auteurs : Pau Pastor [Espagne] ; Mario Ezquerra [Espagne] ; Eduardo Tolosa [Espagne] ; Esteban Mu Oz [Espagne] ; María José Martí [Espagne] ; Francesc Valldeoriola [Espagne] ; José Luís Molinuevo [Espagne] ; Matilde Calopa [Espagne] ; Rafael Oliva [Espagne]

Source :

Movement Disorders [ 0885-3185 ] ; 2002-05.

RBID : ISTEX:1F727DA671612D059FEDCA29B9A404A83444ECA9

Descripteurs français

Pascal (Inist)
- Biologie moléculaire, Chromosome E17, Déterminisme génétique, Facteur risque, Génotype, Haplotype, Homme, Mutation, Ophtalmoplégie supranucléaire, Protéine tau.
Wicri :
- topic : Homme.

English descriptors

KwdEn :
- Aged, Case-Control Studies, Chromosome E17, Chromosomes, Human, Pair 17, Female, Genetic Markers, Genetic Predisposition to Disease, Genetic determinism, Genotype, Haplotype, Haplotypes (genetics), Human, Humans, Male, Microsatellite Repeats, Molecular biology, Mutation, Polymerase Chain Reaction, Risk factor, Supranuclear Palsy, Progressive (epidemiology), Supranuclear Palsy, Progressive (genetics), Supranuclear ophthalmoplegia, Tau protein, genetics, haplotype, progressive supranuclear palsy, tau, 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. © 2002 Movement Disorder Society

Url:

https://api.istex.fr/document/1F727DA671612D059FEDCA29B9A404A83444ECA9/fulltext/pdf

DOI: 10.1002/mds.10076

Affiliations:

Le document en format XML

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<term>Female</term>
<term>Genetic Markers</term>
<term>Genetic Predisposition to Disease</term>
<term>Genetic determinism</term>
<term>Genotype</term>
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<term>Humans</term>
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<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 H1E haplotype, could increase the genetic susceptibility to PSP. © 2002 Movement Disorder Society</div>
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Movement Disorders (revue)

Further extension of the H1 haplotype associated with progressive supranuclear palsy

Further extension of the H1 haplotype associated with progressive supranuclear palsy

Source :

Descripteurs français

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

	Movement Disorders (revue)
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