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Article

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

1
Department of Neurology, Yongin Severance Hospital, Yonsei University College of Medicine, Yongin 16995, Korea
2
Department of Neurology, CHA Bundang Medical Center, CHA University, Seongnam 13496, Korea
3
Department of Neurosurgery, Chungbuk National University Hospital, Chungbuk National University, College of Medicine, Cheongju 28644, Korea
4
Department of Biomedical Science, College of Life Science, CHA University, Seongnam 13488, Korea
*
Authors to whom correspondence should be addressed.
J.K. and Y.S.P. contributed equally to this work.
Int. J. Mol. Sci. 2020, 21(6), 1956; https://doi.org/10.3390/ijms21061956
Received: 18 January 2020 / Revised: 24 February 2020 / Accepted: 10 March 2020 / Published: 13 March 2020
(This article belongs to the Section Molecular Genetics and Genomics)
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. View Full-Text
Keywords: intracranial major artery stenosis/occlusion; RNF-213; moyamoya disease; single nucleotide polymorphism intracranial major artery stenosis/occlusion; RNF-213; moyamoya disease; single nucleotide polymorphism
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MDPI and ACS Style

Kim, J.; Park, Y.S.; Woo, M.-H.; An, H.J.; Kim, J.O.; Park, H.S.; Ryu, C.S.; Kim, O.J.; Kim, N.K. Distribution of Intracranial Major Artery Stenosis/Occlusion According to RNF213 Polymorphisms. Int. J. Mol. Sci. 2020, 21, 1956. https://doi.org/10.3390/ijms21061956

AMA Style

Kim J, Park YS, Woo M-H, An HJ, Kim JO, Park HS, Ryu CS, Kim OJ, Kim NK. Distribution of Intracranial Major Artery Stenosis/Occlusion According to RNF213 Polymorphisms. International Journal of Molecular Sciences. 2020; 21(6):1956. https://doi.org/10.3390/ijms21061956

Chicago/Turabian Style

Kim, Jinkwon, Young Seok Park, Min-Hee Woo, Hui Jeong An, Jung Oh Kim, Han Sung Park, Chang Soo Ryu, Ok Joon Kim, and Nam Keun Kim. 2020. "Distribution of Intracranial Major Artery Stenosis/Occlusion According to RNF213 Polymorphisms" International Journal of Molecular Sciences 21, no. 6: 1956. https://doi.org/10.3390/ijms21061956

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