Genomewide Association Studies of LRRK2 Modifiers of Parkinson's Disease.

ABSTRACT:

Objective

The aim of this study was to search for genes/variants that modify the effect of LRRK2 mutations in terms of penetrance and age-at-onset of Parkinson's disease.

Methods

We performed the first genomewide association study of penetrance and age-at-onset of Parkinson's disease in LRRK2 mutation carriers (776 cases and 1,103 non-cases at their last evaluation). Cox proportional hazard models and linear mixed models were used to identify modifiers of penetrance and age-at-onset of LRRK2 mutations, respectively. We also investigated whether a polygenic risk score derived from a published genomewide association study of Parkinson's disease was able to explain variability in penetrance and age-at-onset in LRRK2 mutation carriers.

Results

A variant located in the int

SUBMITTER: Lai D 

PROVIDER: S-EPMC8252519 | biostudies-literature | 2021 Jul

REPOSITORIES: biostudies-literature