Miyawaki Satoru, Hongo Hiroki, Teranishi Yu, Saito Nobuhito
Department of Neurosurgery, Faculty of Medicine, the University of Tokyo.
No Shinkei Geka. 2022 Jan;50(1):222-233. doi: 10.11477/mf.1436204547.
It has been verified that the missense variant c.14429G>A(p.Arg4810Lys, rs112735431)of ()is significantly associated with intracranial artery stenosis(ICAS). The clinical features of ICAS with p.Arg4810Lys are also becoming clear. In addition, p.Arg4810Lys has been found to be associated with coronary artery stenosis/renal artery stenosis and pulmonary hypertension, and has been attracting attention as a variant that causes systemic vascular disease. Functional analysis of is also progressing, but the mechanism involved in disease onset has not yet been clarified, and further analysis is expected for the realization of personalized medicine for ICAS.
已经证实，（）的错义变体c.14429G>A（p.Arg4810Lys，rs112735431）与颅内动脉狭窄（ICAS）显著相关。携带p.Arg4810Lys的ICAS的临床特征也正在变得清晰。此外，已发现p.Arg4810Lys与冠状动脉狭窄/肾动脉狭窄及肺动脉高压相关，并作为一种导致全身性血管疾病的变体受到关注。（）的功能分析也在进行中，但疾病发病机制尚未阐明，期待进一步分析以实现ICAS的个性化医疗。
