摘要烟雾病是一种以颈内动脉末端进行性狭窄和闭塞为特征的脑血管病，常伴有颅底侧支血管网络形成。该病可引发脑缺血或脑出血，导致较高的残疾和死亡风险，且其临床表现存在显著异质性。虽然 RNF213已被确认为烟雾病的关键风险基因，并且其p.R4810K突变在东亚人群中富集，但单一基因突变无法全面解释所有临床表型的差异。因此，研究人员逐步整合遗传学、免疫微环境、环境因素及多组学数据，提出烟雾病是多因素和多通路共同作用的结果。文章回顾了烟雾病的遗传学研究进展，探讨了关键基因的机制支持与争议，评估了当前研究的局限性，并展望了未来的机制验证与临床分层研究方向。

abstractsMoyamoya disease (MMD) is a cerebrovascular disease characterized by progressive stenosis and occlusion of the terminal internal carotid artery, often accompanied by the formation of a collateral vascular network at the base of the skull. MMD can induce cerebral ischemia or intracerebral hemorrhage, resulting in higher risks of disability and mortality, and its clinical manifestations exhibit significant heterogeneity. Although RNF213 has been identified as a key risk gene for MMD, with its p.R4810K mutation enriched in East Asian populations, a single genetic mutation cannot fully explain all clinical phenotypic variations. Consequently, researchers have gradually integrated genetic, immunological microenvironment, environmental factors, and multi-omics data, and proposed that MMD results from the combined effects of multiple factors and multiple pathways. This article reviews the research progress in the genetics of MMD, discusses the mechanistic support and controversies surrounding key genes, evaluates the limitations of current research, and prospects the future directions for mechanistic validation and clinical stratification studies.