Smaller outer diameter of atherosclerotic middle cerebral artery associated with RNF213 c.14576G>A Variant (rs112735431).
Smaller outer diameter of atherosclerotic middle cerebral artery associated with RNF213 c.14576G>A Variant (rs112735431).
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DOI：
10.4103/sni.sni_59_17
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发表时间：
2017
影响因子：
--
通讯作者：
Saito N
中科院分区：
文献类型：
--
作者：
Hongo H;Miyawaki S;Imai H;Shinya Y;Ono H;Mori H;Nakatomi H;Kunimatsu A;Saito N
颅内动脉粥样硬化（ICAS）涉及不同的组织学和几种重塑模式。环指蛋白213（RNF 213）c.14576G>一种变异体（rs 112735431），最近报道与ICAS相关，可能与颅内动脉的负性重塑（外径减小的形态学改变）有关。本研究探讨了动脉粥样硬化大脑中动脉（MCA）的外径。单侧动脉粥样硬化性MCA狭窄/闭塞的患者入组了东京大学医院的这项基于单一医院的病例对照研究。根据RNF 213 c.14576G>A的存在将患者分为两组（变体组和野生型组），并使用高分辨率磁共振成像测量MCA的外径。纳入了28例野生型患者和19例变异型患者。变异组狭窄侧MCA外径小于野生型组（P = 8.3 × 10-6）。变异组正常侧MCA的外径也小于野生型组（P = 5.2 × 10-3）。变异组狭窄侧与正常侧的比值也小于野生型组（P = 1.5 × 10-5）。提示RNF 213 c.14576G>A与ICAS的负性重构有关。
Intracranial atherosclerosis (ICAS) involves diverse histologies and several remodeling patterns. Ring finger protein 213 (RNF213) c.14576G>A variant (rs112735431), recently reported to be associated with ICAS, may be linked with negative remodeling (outer diameter – reducing morphological alteration) of intracranial arteries. This study investigated the outer diameter of atherosclerotic middle cerebral artery (MCA). Patients with unilateral atherosclerotic MCA stenosis/occlusion were enrolled in this single-hospital-based case-control study at The University of Tokyo Hospital. The patients were divided into two groups by the presence of RNF213 c.14576G>A (variant group and wild-type group) and the outer diameter of the MCA was measured with high-resolution magnetic resonance imaging. Twenty-eight patients with the wild type and 19 patients with the variant type were included. The outer diameter of the stenotic side MCA was smaller in the variant group than in the wild-type group (P = 8.3 × 10-6). The outer diameter of the normal side MCA was also smaller in the variant group than in the wild-type group (P = 5.2 × 10-3). The ratio of stenotic side to normal side was also smaller in the variant group than in the wild-type group (P = 1.5 × 10-5). This study indicates that RNF213 c.14576G>A is associated with negative remodeling of ICAS.