Association of the MAPT locus with Parkinson's disease.

Détails

ID Serval
serval:BIB_5608D0EE29D6
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Titre
Association of the MAPT locus with Parkinson's disease.
Périodique
European Journal of Neurology
Auteur(s)
Wider C., Vilariño-Güell C., Jasinska-Myga B., Heckman M.G., Soto-Ortolaza A.I., Cobb S.A., Aasly J.O., Gibson J.M., Lynch T., Uitti R.J., Wszolek Z.K., Farrer M.J., Ross O.A.
ISSN
1468-1331[electronic], 1351-5101[linking]
Statut éditorial
Publié
Date de publication
2010
Volume
17
Numéro
3
Pages
483-486
Langue
anglais
Résumé
BACKGROUND AND PURPOSE: Whilst an association between the tau gene (MAPT)-containing H1 haplotype and supranuclear gaze palsy (PSP) has long been recognized, the effect of H1 on risk for Parkinson's disease (PD) has remained more contentious.
METHODS: Herein, we examined the association of H1 and PD in three Caucasian PD patient-control series from Ireland, Norway, and the US (combined: n = 2619), by genotyping two H1/H2 single nucleotide polymorphisms (SNPs) in MAPT (rs1052553) and in the Saitohin gene (rs62063857) and one H1-specific SNP (rs242557).
RESULTS: We identified a significant association between H1/H2 and risk of PD (rs1052553 OR: 1.43, CI: 1.23-1.64; rs62063857 OR: 1.45, CI: 1.27-1.67), but no effect of the H1-specific SNP rs242557 (OR: 0.92, CI: 0.82-1.03).
CONCLUSIONS: Our findings show that the H1 haplotype is a significant risk factor for PD. However, one H1-specific SNP (rs242557) previously implicated in PSP did not alter the risk of PD, indicating that distinct H1 sub-haplotypes probably drive the associations with PD and PSP.
Mots-clé
Aged, Case-Control Studies, European Continental Ancestry Group/genetics, Female, Genetic Association Studies, Genetic Predisposition to Disease, Genotype, Haplotypes, Humans, Ireland, Male, Norway, Parkinson Disease/genetics, Polymorphism, Single Nucleotide, Risk Factors, Sequence Analysis, DNA, Supranuclear Palsy, Progressive/genetics, United States, tau Proteins/genetics
Pubmed
Création de la notice
24/09/2010 18:58
Dernière modification de la notice
20/08/2019 15:10
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