The LRRK2 R1628P variant plays a protective role in Han Chinese population with Alzheimer's disease.

ABSTRACT:

Aims

Alzheimer's disease (AD) and Parkinson's disease (PD) are the most prevalent neurodegenerative disorders that may share some overlapping etiologies. Mutations within leucine-rich repeat kinase 2 (LRRK2) have been reported to be responsible for PD, and the location of LRRK2 is within a linkage peak for sporadic AD (SAD). The aim of this study was to investigate two Asian-specific LRRK2 variants, R1628P and G2385R, with the association of Han Chinese SAD.

Methods

Genotyping of R1628P and G2385R was performed by PCR-restriction fragment length polymorphism (RFLP) analysis in 390 patients with SAD and 545 unrelated age- and sex-matched healthy controls.

Results

The frequency of the C allele within R1628P was more than three times higher in control group (1.7%) than i

SUBMITTER: Li HL 

PROVIDER: S-EPMC6493338 | biostudies-literature | 2013 Apr

REPOSITORIES: biostudies-literature