Rare RNF213 variants and the risk of intracranial artery stenosis/occlusion disease in Chinese population: a case-control study.

ABSTRACT:

Background

RNF213 rare variant-p.R4810K (rs112735431) was significantly associated with intracranial artery stenosis/occlusion disease (ICASO) in Japan and Korea and to a lesser degree in China. Considering the allelic heterogeneity, we performed target exome sequencing of RNF213 with the aim to identify the rare variants spectrum and their association with ICASO in a Chinese population and further to explore whether the rare variants carrier patients present specific clinical phenotype.

Methods

Target exome sequencing of RNF213 was performed in 250 ICASO patients using FastTarget sequencing technology. Various filtering process were used to select the candidate variants. Control individuals were obtain from 1000 Genome Project (208 Chinese samples) and GeneSky in-house data

SUBMITTER: Liao X 

PROVIDER: S-EPMC6441181 | biostudies-literature | 2019 Mar

REPOSITORIES: biostudies-literature