The role of NOTCH3 variants in Alzheimer's disease and subcortical vascular dementia in the Chinese population.

ABSTRACT:

Aims

NOTCH3 gene mutations predominantly cause cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, a common etiology of subcortical vascular dementia (SVaD). Besides, there may be a pathogenic link between NOTCH3 variants and Alzheimer's disease (AD). We aimed to study the role of NOTCH3 variants in AD and SVaD patients.

Methods

We recruited 763 patients with dementia (667 AD and 96 SVaD) and 365 healthy controls from the Southern Han Chinese population. Targeted capture sequencing was performed on NOTCH3 coding and adjacent intron regions to detect the pathogenic variants in AD and SVaD. The relationship between common or rare NOTCH3 variants and AD was further analyzed using Plink1.9.

Results

Five known pathogenic variants (p.

SUBMITTER: Guo L 

PROVIDER: S-EPMC8265940 | biostudies-literature | 2021 Aug

REPOSITORIES: biostudies-literature