Genetic analysis of transcription factors in dopaminergic neuronal development in Parkinson's disease.

ABSTRACT:

Background

Genetic variants of dopaminergic transcription factor-encoding genes are suggested to be Parkinson's disease (PD) risk factors; however, no comprehensive analyses of these genes in patients with PD have been undertaken. Therefore, we aimed to genetically analyze 16 dopaminergic transcription factor genes in Chinese patients with PD.

Methods

Whole-exome sequencing (WES) was performed using a Chinese cohort comprising 1917 unrelated patients with familial or sporadic early-onset PD and 1652 controls. Additionally, whole-genome sequencing (WGS) was performed using another Chinese cohort comprising 1962 unrelated patients with sporadic late-onset PD and 1279 controls.

Results

We detected 308 rare and 208 rare protein-altering variants in the WES and WGS cohorts

SUBMITTER: Zhao Y 

PROVIDER: S-EPMC10876230 | biostudies-literature | 2024 Feb

REPOSITORIES: biostudies-literature