Genetic analysis reveals novel variants for vascular cognitive impairment.

ABSTRACT:

Objectives

The genetic background of vascular cognitive impairment (VCI) is poorly understood compared to other dementia disorders. The aim of the study was to investigate the genetic background of VCI in a well-characterized Finnish cohort.

Materials & methods

Whole-exome sequencing (WES) was applied in 45 Finnish VCI patients. Copy-number variant (CNV) analysis using a SNP array was performed in 80 VCI patients. This study also examined the prevalence of variants at the miR-29 binding site of COL4A1 in 73 Finnish VCI patients.

Results

In 40% (18/45) of the cases, WES detected possibly causative variants in genes associated with cerebral small vessel disease (CSVD) or other neurological or stroke-related disorders. These variants included HTRA1:c.847G>A p.(Gly283Arg)

SUBMITTER: Monkare S 

PROVIDER: S-EPMC9314039 | biostudies-literature | 2022 Jul

REPOSITORIES: biostudies-literature