Rare and Low-Frequency Variants in RNF213 Confer Susceptibility to Moyamoya Syndrome Associated with Hyperthyroidism
Rare and Low-Frequency Variants in RNF213 Confer Susceptibility to Moyamoya Syndrome Associated with Hyperthyroidism
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DOI：
10.1016/j.wneu.2019.03.172
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发表时间：
2019-07-01
影响因子：
2
通讯作者：
Kawamata, Takakazu
中科院分区：
文献类型：
--
作者：
Nomura, Shunsuke;Akagawa, Hiroyuki;Kawamata, Takakazu
背景：烟雾综合征（MMS）不同于明确的烟雾病（MMD），其特征是烟雾血管病变被认为是继发于潜在疾病（如甲状腺功能亢进）。最近的研究表明，一部分东亚（EAS） MMS患者具有RNF213的p.R4810K变异（rs112735431），这是东亚（EAS）烟雾病患者中最重要的易感变异。我们评估了与甲状腺功能亢进相关的MMS （hMMS）与RNF213序列变异之间的关系。方法：我们对15例hMMS患者进行了下一代RNF213测序。关联分析的候选编码变异体由等位基因频率定义
BACKGROUND: Moyamoya syndrome (MMS), distinguished from definite moyamoya disease (MMD), is characterized by moyamoya vasculopathy thought to develop secondary to underlying conditions (e.g., hyperthyroidism). Recent studies have shown that a proportion of East Asian (EAS) patients with MMS possess the p.R4810K variant of RNF213 (rs112735431), the foremost susceptibility variant among EAS patients with MMD. We evaluated the association between hyperthyroidism-associated MMS (hMMS) and sequence variants in RNF213.METHODS: We performed next-generation sequencing of RNF213 in 15 patients with hMMS. Candidate coding variants for the association analysis were defined by allelic frequencies of