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Distribution of Intracranial Major Artery Stenosis/Occlusion According to RNF213 Polymorphisms

Intracranial major artery stenosis/occlusion (ICASO) is the major cause of ischemic stroke. Recent studies have suggested that variants of RNF213, a susceptibility gene for moyamoya disease (MMD), are also related to non-MMD ICASO. Regarding the predominant involvement of steno-occlusion on anterior...

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Autores principales: Kim, Jinkwon, Park, Young Seok, Woo, Min-Hee, An, Hui Jeong, Kim, Jung Oh, Park, Han Sung, Ryu, Chang Soo, Kim, Ok Joon, Kim, Nam Keun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7139595/
https://www.ncbi.nlm.nih.gov/pubmed/32182997
http://dx.doi.org/10.3390/ijms21061956
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author Kim, Jinkwon
Park, Young Seok
Woo, Min-Hee
An, Hui Jeong
Kim, Jung Oh
Park, Han Sung
Ryu, Chang Soo
Kim, Ok Joon
Kim, Nam Keun
author_facet Kim, Jinkwon
Park, Young Seok
Woo, Min-Hee
An, Hui Jeong
Kim, Jung Oh
Park, Han Sung
Ryu, Chang Soo
Kim, Ok Joon
Kim, Nam Keun
author_sort Kim, Jinkwon
collection PubMed
description Intracranial major artery stenosis/occlusion (ICASO) is the major cause of ischemic stroke. Recent studies have suggested that variants of RNF213, a susceptibility gene for moyamoya disease (MMD), are also related to non-MMD ICASO. Regarding the predominant involvement of steno-occlusion on anterior circulation in MMD, we hypothesized that the ICASO distribution pattern (anterior/posterior) in non-MMD may differ according to RNF213 variants. This study analyzed 1024 consecutive Korean subjects without MMD who underwent computed tomography angiography (CTA) or magnetic resonance angiography (MRA). We evaluated four single nucleotide polymorphisms (SNPs) in the exon region of RNF213: 4448G > A (rs148731719), 4810G > A (rs112735431), 4863G > A (rs760732823), and 4950G > A (rs371441113). Associations between RNF213 variants and anterior/posterior ICASO were examined using multivariate logistic regression analysis. Anterior ICASO was present in 23.0% of study subjects, and posterior ICASO was present in 8.2%. The GA genotype of RNF213 4810G > A (adjusted odds ratio (AOR) [95% confidence interval (CI)], 2.39 [1.14–4.87] compared to GG; p = 0.018) and GA genotype of RNF213 4950G > A (AOR [95% CI], 1.71 [1.11–2.63] compared to GG; p = 0.015) were more frequent in subjects with anterior ICASO. The genotype frequency of RNF213 4863G > A differed significantly according to the presence of posterior ICASO. Further investigations of the functional and biological roles of RNF213 will improve our understanding of the pathomechanisms of ICASO and cerebrovascular disease.
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spelling pubmed-71395952020-04-10 Distribution of Intracranial Major Artery Stenosis/Occlusion According to RNF213 Polymorphisms Kim, Jinkwon Park, Young Seok Woo, Min-Hee An, Hui Jeong Kim, Jung Oh Park, Han Sung Ryu, Chang Soo Kim, Ok Joon Kim, Nam Keun Int J Mol Sci Article Intracranial major artery stenosis/occlusion (ICASO) is the major cause of ischemic stroke. Recent studies have suggested that variants of RNF213, a susceptibility gene for moyamoya disease (MMD), are also related to non-MMD ICASO. Regarding the predominant involvement of steno-occlusion on anterior circulation in MMD, we hypothesized that the ICASO distribution pattern (anterior/posterior) in non-MMD may differ according to RNF213 variants. This study analyzed 1024 consecutive Korean subjects without MMD who underwent computed tomography angiography (CTA) or magnetic resonance angiography (MRA). We evaluated four single nucleotide polymorphisms (SNPs) in the exon region of RNF213: 4448G > A (rs148731719), 4810G > A (rs112735431), 4863G > A (rs760732823), and 4950G > A (rs371441113). Associations between RNF213 variants and anterior/posterior ICASO were examined using multivariate logistic regression analysis. Anterior ICASO was present in 23.0% of study subjects, and posterior ICASO was present in 8.2%. The GA genotype of RNF213 4810G > A (adjusted odds ratio (AOR) [95% confidence interval (CI)], 2.39 [1.14–4.87] compared to GG; p = 0.018) and GA genotype of RNF213 4950G > A (AOR [95% CI], 1.71 [1.11–2.63] compared to GG; p = 0.015) were more frequent in subjects with anterior ICASO. The genotype frequency of RNF213 4863G > A differed significantly according to the presence of posterior ICASO. Further investigations of the functional and biological roles of RNF213 will improve our understanding of the pathomechanisms of ICASO and cerebrovascular disease. MDPI 2020-03-13 /pmc/articles/PMC7139595/ /pubmed/32182997 http://dx.doi.org/10.3390/ijms21061956 Text en © 2020 by the authors. 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 (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Kim, Jinkwon
Park, Young Seok
Woo, Min-Hee
An, Hui Jeong
Kim, Jung Oh
Park, Han Sung
Ryu, Chang Soo
Kim, Ok Joon
Kim, Nam Keun
Distribution of Intracranial Major Artery Stenosis/Occlusion According to RNF213 Polymorphisms
title Distribution of Intracranial Major Artery Stenosis/Occlusion According to RNF213 Polymorphisms
title_full Distribution of Intracranial Major Artery Stenosis/Occlusion According to RNF213 Polymorphisms
title_fullStr Distribution of Intracranial Major Artery Stenosis/Occlusion According to RNF213 Polymorphisms
title_full_unstemmed Distribution of Intracranial Major Artery Stenosis/Occlusion According to RNF213 Polymorphisms
title_short Distribution of Intracranial Major Artery Stenosis/Occlusion According to RNF213 Polymorphisms
title_sort distribution of intracranial major artery stenosis/occlusion according to rnf213 polymorphisms
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7139595/
https://www.ncbi.nlm.nih.gov/pubmed/32182997
http://dx.doi.org/10.3390/ijms21061956
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