| Summary: | A mutation in <i>RNF213</i> (c.14576G>A), a gene associated with moyamoya disease (>80%), plays a role in terminal internal carotid artery (ICA) stenosis (>15%) (ICS). Studies on <i>RNF213</i> 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 <i>RNF213</i> and AN in French-Canadians. Here, we investigated the relationship between ICA saccular aneurysm (ICA-AN) and <i>RNF213</i>. We analyzed <i>RNF213</i> 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. <i>RNF213</i> 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 <i>RNF213</i> mutation expression (odds ratio, 0.884; 95% confidence interval, 0.199–3.91; <i>p</i> = 0.871). The relationship between ICA-AN and <i>RNF213</i> (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 <i>RNF213</i> 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 <i>RNF213</i> (c.14576G>A) mutation has been implicated.
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