Association between NOTCH3 gene and Parkinson's disease based on whole-exome sequencing.

ABSTRACT:

Objective

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary cerebral small vessel disease caused by mutations in the NOTCH3 gene. Previous studies have established a link between NOTCH3 variants and Parkinson's disease (PD) in terms of neuropathology and clinical characteristics. In this study, we aimed to explore the role of NOTCH3 gene in PD in a large Chinese cohort.

Methods

A total of 1,917 patients with early-onset or familial PD and 1,652 matched controls were included. All variants were divided into common or rare types by minor allele frequency (MAF) at a threshold of 0.01 (MAF > 0.01 into common variants and others into rare variants). Common variants were subjected to single-var

SUBMITTER: Zeng Q 

PROVIDER: S-EPMC9780269 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature