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RNF213 c.14576G>A Is Associated with Intracranial Internal Carotid Artery Saccular Aneurysms

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 re...

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Autores principales: Murai, Yasuo, Ishisaka, Eitaro, Watanabe, Atsushi, Sekine, Tetsuro, Shirokane, Kazutaka, Matano, Fumihiro, Nakae, Ryuta, Tamaki, Tomonori, Koketsu, Kenta, Morita, Akio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8535736/
https://www.ncbi.nlm.nih.gov/pubmed/34680863
http://dx.doi.org/10.3390/genes12101468
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author Murai, Yasuo
Ishisaka, Eitaro
Watanabe, Atsushi
Sekine, Tetsuro
Shirokane, Kazutaka
Matano, Fumihiro
Nakae, Ryuta
Tamaki, Tomonori
Koketsu, Kenta
Morita, Akio
author_facet Murai, Yasuo
Ishisaka, Eitaro
Watanabe, Atsushi
Sekine, Tetsuro
Shirokane, Kazutaka
Matano, Fumihiro
Nakae, Ryuta
Tamaki, Tomonori
Koketsu, Kenta
Morita, Akio
author_sort Murai, Yasuo
collection PubMed
description 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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spelling pubmed-85357362021-10-23 RNF213 c.14576G>A Is Associated with Intracranial Internal Carotid Artery Saccular Aneurysms Murai, Yasuo Ishisaka, Eitaro Watanabe, Atsushi Sekine, Tetsuro Shirokane, Kazutaka Matano, Fumihiro Nakae, Ryuta Tamaki, Tomonori Koketsu, Kenta Morita, Akio Genes (Basel) Article 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. MDPI 2021-09-23 /pmc/articles/PMC8535736/ /pubmed/34680863 http://dx.doi.org/10.3390/genes12101468 Text en © 2021 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Murai, Yasuo
Ishisaka, Eitaro
Watanabe, Atsushi
Sekine, Tetsuro
Shirokane, Kazutaka
Matano, Fumihiro
Nakae, Ryuta
Tamaki, Tomonori
Koketsu, Kenta
Morita, Akio
RNF213 c.14576G>A Is Associated with Intracranial Internal Carotid Artery Saccular Aneurysms
title RNF213 c.14576G>A Is Associated with Intracranial Internal Carotid Artery Saccular Aneurysms
title_full RNF213 c.14576G>A Is Associated with Intracranial Internal Carotid Artery Saccular Aneurysms
title_fullStr RNF213 c.14576G>A Is Associated with Intracranial Internal Carotid Artery Saccular Aneurysms
title_full_unstemmed RNF213 c.14576G>A Is Associated with Intracranial Internal Carotid Artery Saccular Aneurysms
title_short RNF213 c.14576G>A Is Associated with Intracranial Internal Carotid Artery Saccular Aneurysms
title_sort rnf213 c.14576g>a is associated with intracranial internal carotid artery saccular aneurysms
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8535736/
https://www.ncbi.nlm.nih.gov/pubmed/34680863
http://dx.doi.org/10.3390/genes12101468
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