Amplified Risk of Intracranial Artery Stenosis/Occlusion Associated With RNF213 p.R4810K in Familial Hypercholesterolemia.

ABSTRACT:

Background

The RNF213 p.R4810K variant is associated with moyamoya disease in East Asian individuals and increases the risk of developing intracranial major artery stenosis/occlusion (ICASO) that affects anterior circulation. Meanwhile, 0.5% to 2.5% of asymptomatic East Asian individuals also carry this variant. As such, additional factors are likely required to develop ICASO in variant carriers. Familial hypercholesterolemia (FH) is a common genetic disorder in Japan that has a significant associated risk of developing premature coronary atherosclerosis; however, the relationship between ICASO and FH remains unknown.

Objectives

This study aimed to determine if FH facilitates RNF213 p.R4810K carriers to develop ICASO.

Methods

We enrolled patients with FH

SUBMITTER: Noda K 

PROVIDER: S-EPMC10442882 | biostudies-literature | 2023 Aug

REPOSITORIES: biostudies-literature