国家神经系统疾病临床医学研究中心数据管理与共享系统

发表杂志：Stroke and Vascular Neurology

发表类型: Original Contributions

影响因子(IF): 9.893

PMID: PMID: 37137523 Pubmed原文链接 全文下载

Moyamoya disease (MMD) is a rare cerebral vasculopathy characterized by bilateral internal carotid artery stenosis and often leads to stroke in children or young adults. Familial aggregation is well recognized in MMD, suggesting the importance of genetic factors. A missense mutation in RNF213, R4810K(rs112735431), has been widely detected in patients with MMD. Recently, a research letter, published in Circulation, identified that RNF213 p.R4810K increases the risk of ischemic stroke attributable to large-artery atherosclerosis. In past studies, the mutation shows marked frequency variation across populations (90% in Japanese, 80% in Koreans, only 13% in Chinese ; and no detectable in non-Asian patients).This study aims to investigate the relationship between RNF213 Variants and intracranial artery stenosis in Chinese patients with acute ischemic stroke. Meanwhile, we will describe the baseline characteristics and prognosis at 1 year of patient with RNF213 variants to characterize the frequency、clinical features , stroke recurrence and cardiovascular death at 1 year.

We analysed data from the Third China National Stroke Registry. All included participants were divided into two groups by carrier status of the p.R4810K variant. The aetiological classification was conducted according to the Trial of Org 10172 in Acute Stroke Treatment (TOAST) criteria. The presence of ICAS and extracranial arterial stenosis (ECAS) was defined as 50%–99% stenosis or occlusion of any intracranial and extracranial artery. Logistic regression models and Cox regression models were used to evaluate the association of the p.R4810K variant with TOAST classification, stenosis phenotypes and clinical outcomes.