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.
journal_name
Neurobiol Agingjournal_title
Neurobiology of agingauthors
Ezquerra M,Pastor P,Gaig C,Vidal-Taboada JM,Cruchaga C,Muñoz E,Martí MJ,Valldeoriola F,Aguilar M,Calopa M,Hernandez-Vara J,Tolosa Edoi
10.1016/j.neurobiolaging.2009.09.011subject
Has Abstractpub_date
2011-03-01 00:00:00pages
547.e11-6issue
3eissn
0197-4580issn
1558-1497pii
S0197-4580(09)00317-0journal_volume
32pub_type
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