Analysis of common and rare VPS13C variants in late-onset Parkinson disease.

ABSTRACT:

Objective

We aimed to study the role of coding VPS13C variants in a large cohort of patients with late-onset Parkinson disease (PD) (LOPD).

Methods

VPS13C and its untranslated regions were sequenced using targeted next-generation sequencing in 1,567 patients with PD and 1,667 controls from 3 cohorts. Association tests of rare potential homozygous and compound heterozygous variants and burden tests for rare heterozygous variants were performed. Common variants were analyzed using logistic regression adjusted for age and sex in each of the cohorts, followed by a meta-analysis.

Results

No biallelic carriers of rare VPS13C variants were found among patients, and 2 carriers of compound heterozygous variants were found in 2 controls. There was no statis

SUBMITTER: Rudakou U 

PROVIDER: S-EPMC6984134 | biostudies-literature | 2020 Feb

REPOSITORIES: biostudies-literature