RNF213 c.14576G>A Is Associated with Intracranial Internal Carotid Artery Saccular Aneurysms.
RNF213 c.14576G>A Is Associated with Intracranial Internal Carotid Artery Saccular Aneurysms.
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DOI：
10.3390/genes12101468
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发表时间：
2021-09-23
期刊：
影响因子：
3.5
通讯作者：
Morita A
中科院分区：
文献类型：
--
作者：
Murai Y;Ishisaka E;Watanabe A;Sekine T;Shirokane K;Matano F;Nakae R;Tamaki T;Koketsu K;Morita A
RNF213 (c.14576G>A) 是一种与烟雾病 (>80%) 相关的基因，其突变在颈内动脉 (ICA) 末端狭窄 (>15%) (ICS) 中发挥作用。对RNF213和脑动脉瘤（AN）的研究没有关注起源部位或形态，无法阐明两者之间的关系。然而，一份报告表明 RNF213 和法裔加拿大人中的 AN 之间存在关系。在这里，我们研究了 ICA 囊状动脉瘤 (ICA-AN) 和 RNF213 之间的关系。我们分析了 ICA-AN 和动脉粥样硬化 ICS 受试者中的 RNF213 表达。有烟雾病家族史的病例被排除在外。小于 4 毫米的 AN 仅通过手术或血管造影检查结果确诊为 AN。 RNF213 在 12.2% 的 ICA-AN 患者和 13.6% 的 ICS 患者中检测到； ICA-AN 和 ICS 患者的 RNF213 突变表达风险相似（比值比，0.884；95% 置信区间，0.199–3.91；p = 0.871）。 ICA-AN 和 RNF213 (c.14576G>A) 之间的关系与 ICA 和分叉的位置、是否存在破裂或多重性无关。当 AN 的病因和部位受到更多限制时，ICA-AN 中 RNF213 突变的发生率高于以往研究报道的水平。我们的结果表明，严格的母体血管选择和 AN 形态的病理选择可能揭示基因突变与 ICA-AN 发展之间的关联。这项研究的结果可能为进一步研究涉及 RNF213 (c.14576G>A) 突变的系统性血管疾病奠定基础。
A mutation in RNF213 (c.14576G>A), a gene associated with moyamoya disease (>80%), plays a role in terminal internal carotid artery (ICA) stenosis (>15%) (ICS). Studies on RNF213 and cerebral aneurysms (AN), which did not focus on the site of origin or morphology, could not elucidate the relationship between the two. However, a report suggested a relationship between RNF213 and AN in French-Canadians. Here, we investigated the relationship between ICA saccular aneurysm (ICA-AN) and RNF213. We analyzed RNF213 expression in subjects with ICA-AN and atherosclerotic ICS. Cases with a family history of moyamoya disease were excluded. AN smaller than 4 mm were confirmed as AN only by surgical or angiographic findings. RNF213 was detected in 12.2% of patients with ICA-AN and 13.6% of patients with ICS; patients with ICA-AN and ICS had a similar risk of RNF213 mutation expression (odds ratio, 0.884; 95% confidence interval, 0.199–3.91; p = 0.871). The relationship between ICA-AN and RNF213 (c.14576G>A) was not correlated with the location of the ICA and bifurcation, presence of rupture, or multiplicity. When the etiology and location of AN were more restricted, the incidence of RNF213 mutations in ICA-AN was higher than that reported in previous studies. Our results suggest that strict maternal vessel selection and pathological selection of AN morphology may reveal an association between genetic mutations and ICA-AN development. The results of this study may form a basis for further research on systemic vascular diseases, in which the RNF213 (c.14576G>A) mutation has been implicated.
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影响因子：
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作者：
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