Haplotypes and gene expression implicate the MAPT region for Parkinson disease: the GenePD Study.

ABSTRACT:

Background

Microtubule-associated protein tau (MAPT) has been associated with several neurodegenerative disorders including forms of parkinsonism and Parkinson disease (PD). We evaluated the association of the MAPT region with PD in a large cohort of familial PD cases recruited by the GenePD Study. In addition, postmortem brain samples from patients with PD and neurologically normal controls were used to evaluate whether the expression of the 3-repeat and 4-repeat isoforms of MAPT, and neighboring genes Saitohin (STH) and KIAA1267, are altered in PD cerebellum.

Methods

Twenty-one single-nucleotide polymorphisms (SNPs) in the region of MAPT on chromosome 17q21 were genotyped in the GenePD Study. Single SNPs and haplotypes, including the H1 haplotype, were evaluated for associ

SUBMITTER: Tobin JE 

PROVIDER: S-EPMC2654275 | biostudies-literature | 2008 Jul

REPOSITORIES: biostudies-literature