Association of rare RNF213 variants and intracranial aneurysm risk in a Chinese population.

ABSTRACT:

Background

Genetic factors play important roles in the development of intracranial aneurysm (IA). Rare RNF213 variants have been identified as being susceptible to Moyamoya disease (MMD), non-MMD intracranial artery stenosis/occlusion disease, and other vascular disorders. This study aimed to investigate the association between rare RNF213 variants and the risk of IA in a Chinese population.

Methods

We recruited 174 patients with IA for RNF213 target exome sequencing. Information on the control subjects was obtained from the 1,000 Genome Project and GeneSky in-house database. After prioritizing rare RNF213 variants, the filtered variants were confirmed by Sanger sequencing. Gene-based association analyses were performed to identify the association

SUBMITTER: Li Y 

PROVIDER: S-EPMC9843384 | biostudies-literature | 2022 Dec

REPOSITORIES: biostudies-literature