Differential effects of severe vs mild GBA mutations on Parkinson disease.

ABSTRACT:

Objective

To better define the genotype-phenotype correlations between the type of GBA (glucosidase, beta, acid) mutation, severe or mild, and the risk and age at onset (AAO), and potential mechanism of Parkinson disease (PD).

Methods

We analyzed 1,000 patients of Ashkenazi-Jewish descent with PD for 7 founder GBA mutations, and conducted a meta-analysis of risk and AAO according to GBA genotype (severe or mild mutation). The meta-analysis included 11,453 patients with PD and 14,565 controls from worldwide populations. The statistical analysis was done with and without continuity correction (constant or empirical), considering biases that could potentially affect the results.

Results

Among Ashkenazi-Jewish patients with PD, the odds ratios for PD were 2.2 and 10.3 for

SUBMITTER: Gan-Or Z 

PROVIDER: S-EPMC4351661 | biostudies-literature | 2015 Mar

REPOSITORIES: biostudies-literature