Coding and Noncoding Variation in LRRK2 and Parkinson's Disease Risk.

ABSTRACT:

Background

The leucine-rich repeat kinase 2 (LRRK2) gene harbors both rare highly damaging missense variants (eg, p.G2019S) and common noncoding variants (eg, rs76904798) with lower effect sizes that are associated with Parkinson's disease (PD) risk.

Objectives

This study aimed to investigate in a large meta-analysis whether the LRRK2 Genome-Wide Association Study (GWAS) signal represented by rs76904798 is independently associated with PD risk from LRRK2 coding variation and whether complex linkage disequilibrium structures with p.G2019S and the 5' noncoding haplotype account for the association of LRRK2 coding variants.

Methods

We performed a meta-analysis using imputed genotypes from 17,838 patients, 13,404 proxy patients, and 173,639 healthy controls of European an

SUBMITTER: Lake J 

PROVIDER: S-EPMC9292230 | biostudies-literature | 2022 Jan

REPOSITORIES: biostudies-literature