Genetic analysis of the ATP11B gene in Chinese Han population with cerebral small vessel disease.

ABSTRACT:

Background

A loss-of-function mutation in ATPase phospholipid transporting 11-B (putative) (ATP11B) gene causing cerebral small vessel disease (SVD) in vivo, and a single intronic nucleotide polymorphism in ATP11B: rs148771930 that was associated with white matter hyperintensities burden in European patients with SVD, was recently identified. Our results suggest that ATP11B may not play an essential role in SVD in the Chinese population.

Results

We performed target region sequencing including ATP11B gene in 182 patients with sporadic SVD, and identified five rare variants and two novel variants of ATP11B. A case-control study was then performed in 524 patients and matched 550 controls to investigate the relationship between ATP11B and sporadic SVD in the Chinese Han populati

SUBMITTER: Yu WK 

PROVIDER: S-EPMC9746074 | biostudies-literature | 2022 Dec

REPOSITORIES: biostudies-literature