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Int. J. Mol. Sci. 2017, 18(11), 2477; https://doi.org/10.3390/ijms18112477

The Role of RNF213 4810G>A and 4950G>A Variants in Patients with Moyamoya Disease in Korea

1
Department of Neurosurgery, College of Medicine, Chungbuk National University, Cheongju 28644, Korea
2
Department of Biomedical Science, College of Life Science, CHA University, Seongnam 13488, Korea
3
Department of Pediatrics, College of Medicine, Chungbuk National University, Cheongju 28644, Korea
4
Department of Neurology, CHA Bundang Medical Center, School of Medicine, CHA University, Seongnam 13496, Korea
5
Department of Pediatric Neurosurgery, Severance Hospital, Seoul 03722, Korea
*
Author to whom correspondence should be addressed.
Received: 17 October 2017 / Revised: 16 November 2017 / Accepted: 18 November 2017 / Published: 21 November 2017
(This article belongs to the Section Molecular Pathology, Diagnostics, and Therapeutics)
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Abstract

Although a founder variant of RNF213 4810G>A is a major genetic risk factor for moyamoya disease (MMD) in East Asians, the frequency and disease susceptibility of RNF213 variants remain largely unknown. This study investigated the mutation analysis of RNF213 (4448, 4810, 4863, and 4950) between Korean MMD and healthy controls. We performed a polymerase chain reaction-restriction fragment length polymorphism analysis. To identify the association between RNF213 gene polymorphisms and MMD disease, we performed statistical analyses such as multivariable logistic regression and Fisher’s exact test. Genetic data from 117 MMD patients were analyzed and compared with 253 healthy controls. We assessed and compared single nucleotide polymorphisms of RNF213 (4448, 4810, 4863, and 4950) between MMD and control groups. We performed genome-wide association studies to investigate the genetic pathophysiology of MMD. Among the RNF213 variants (4448G>A, 4810G>A, 4863G>A, and 4950G>A), RNF213 4810G>A and 4950G>A variants were more frequent in MMD patients. In a subgroup analysis, the RNF213 4810G>A was more frequent in moyamoya disease, and the comparison with GG+AA genotype was also significantly different in moyamoya patients. These results confirm that RNF213 4810G>A and RNF213 4950G>A were more frequent in MMD patients. We have confirmed that RNF213 4810G>A and 4950G>A are strongly associated with Korean MMD in children and adults as well as for the ischemic and hemorrhagic types. View Full-Text
Keywords: moyamoya disease; single nucleotide polymorphism; genetic; stroke; cerebrovascular disease; RNF213 moyamoya disease; single nucleotide polymorphism; genetic; stroke; cerebrovascular disease; RNF213
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This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited (CC BY 4.0).

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Park, Y.S.; An, H.J.; Kim, J.O.; Kim, W.S.; Han, I.B.; Kim, O.J.; Kim, N.K.; Kim, D.-S. The Role of RNF213 4810G>A and 4950G>A Variants in Patients with Moyamoya Disease in Korea. Int. J. Mol. Sci. 2017, 18, 2477.

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