title: Different MAPT haplotypes are associated with Parkinson's disease and progressive supranuclear palsy.
abstract: The H1 MAPT haplotype in the 17q21 chromosomal region has been associated with several neurodegenerative diseases. Some reports have suggested that there is an association between genetic variants within the H1 haplotype with Parkinson's disease (PD), progressive supranuclear palsy (PSP) and corticobasal degeneration (CBD). Here we report a genetic association study using seven SNPs located along the 17q21 region, in PD patients and controls. In addition, we compared these results with a dataset of previously published PSP/CBD patients from the same population. Our results show that the H1-rs242557(G) allele sub-haplotype is increased in PD (p=0.005), while the H1-rs242557(A) allele sub-haplotype is increased in PSP/CBD (p=0.0002), comparing to controls. The rs242557 polymorphism could act modulating the phenotypic expressivity of the H1 risk on these parkinsonisms. The location of this polymorphism in the 5' regulatory region of MAPT gene suggests the presence of a functional mechanism involved in the variation of MAPT expression levels.
authors.affiliation: Institut Clínic de Neurociències, Hospital Clínic de Barcelona, Department of Medicine, Universitat de Barcelona, IDIBAPS, Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), Barcelona, Catalonia, Spain.
authors.forename: Mario
authors.initials: M
authors.lastname: Ezquerra
authors.forename: Pau
authors.initials: P
authors.lastname: Pastor
authors.forename: Carles
authors.initials: C
authors.lastname: Gaig
authors.forename: Jose M
authors.initials: JM
authors.lastname: Vidal-Taboada
authors.forename: Carlos
authors.initials: C
authors.lastname: Cruchaga
authors.forename: Esteban
authors.initials: E
authors.lastname: Muñoz
authors.forename: Maria-Jose
authors.initials: MJ
authors.lastname: Martí
authors.forename: Francesc
authors.initials: F
authors.lastname: Valldeoriola
authors.forename: Miquel
authors.initials: M
authors.lastname: Aguilar
authors.forename: Matilde
authors.initials: M
authors.lastname: Calopa
authors.forename: Jorge
authors.initials: J
authors.lastname: Hernandez-Vara
authors.forename: Eduardo
authors.initials: E
authors.lastname: Tolosa
mesh_terms: D017668:Age of Onset; D000368:Aged; D000369:Aged, 80 and over; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics; D005260:Female; D055106:Genome-Wide Association Study; D006239:Haplotypes; D006801:Humans; D015810:Linkage Disequilibrium; D008297:Male; D008875:Middle Aged; D010300:Parkinson Disease / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D018709:Statistics, Nonparametric; D013494:Supranuclear Palsy, Progressive / Q000235:genetics*; D016875:tau Proteins / Q000235:genetics*
chemical_list: C054369:MAPT protein, human; D016875:tau Proteins