Cited 18 times in
The Role of RNF213 4810G>A and 4950G>A Variants in Patients with Moyamoya Disease in Korea
DC Field | Value | Language |
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dc.contributor.author | 김동석 | - |
dc.date.accessioned | 2023-08-09T02:39:39Z | - |
dc.date.available | 2023-08-09T02:39:39Z | - |
dc.date.issued | 2017-11 | - |
dc.identifier.issn | 1661-6596 | - |
dc.identifier.uri | https://ir.ymlib.yonsei.ac.kr/handle/22282913/195725 | - |
dc.description.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. | - |
dc.description.statementOfResponsibility | open | - |
dc.format | application/pdf | - |
dc.language | English | - |
dc.publisher | MDPI | - |
dc.relation.isPartOf | INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES | - |
dc.rights | CC BY-NC-ND 2.0 KR | - |
dc.subject.MESH | Adenosine Triphosphatases / genetics* | - |
dc.subject.MESH | Adolescent | - |
dc.subject.MESH | Adult | - |
dc.subject.MESH | Alleles* | - |
dc.subject.MESH | Case-Control Studies | - |
dc.subject.MESH | Female | - |
dc.subject.MESH | Gene Frequency | - |
dc.subject.MESH | Genetic Predisposition to Disease* | - |
dc.subject.MESH | Genotype | - |
dc.subject.MESH | Haplotypes | - |
dc.subject.MESH | Humans | - |
dc.subject.MESH | Male | - |
dc.subject.MESH | Moyamoya Disease / genetics* | - |
dc.subject.MESH | Polymorphism, Single Nucleotide* | - |
dc.subject.MESH | Population Groups / genetics | - |
dc.subject.MESH | Republic of Korea | - |
dc.subject.MESH | Ubiquitin-Protein Ligases / genetics* | - |
dc.subject.MESH | Young Adult | - |
dc.title | The Role of RNF213 4810G>A and 4950G>A Variants in Patients with Moyamoya Disease in Korea | - |
dc.type | Article | - |
dc.contributor.college | College of Medicine (의과대학) | - |
dc.contributor.department | Dept. of Neurosurgery (신경외과학교실) | - |
dc.contributor.googleauthor | Young Seok Park | - |
dc.contributor.googleauthor | Hui Jeong An | - |
dc.contributor.googleauthor | Jung Oh Kim | - |
dc.contributor.googleauthor | Won Seop Kim | - |
dc.contributor.googleauthor | In Bo Han | - |
dc.contributor.googleauthor | Ok Joon Kim | - |
dc.contributor.googleauthor | Nam Keun Kim | - |
dc.contributor.googleauthor | Dong-Seok Kim | - |
dc.identifier.doi | 10.3390/ijms18112477 | - |
dc.contributor.localId | A00402 | - |
dc.contributor.localId | A00727 | - |
dc.contributor.localId | A01086 | - |
dc.relation.journalcode | J01133 | - |
dc.identifier.eissn | 1422-0067 | - |
dc.identifier.pmid | 29160859 | - |
dc.subject.keyword | RNF213 | - |
dc.subject.keyword | cerebrovascular disease | - |
dc.subject.keyword | genetic | - |
dc.subject.keyword | moyamoya disease | - |
dc.subject.keyword | single nucleotide polymorphism | - |
dc.subject.keyword | stroke | - |
dc.contributor.alternativeName | Kim, Dong Seok | - |
dc.contributor.affiliatedAuthor | 김동석 | - |
dc.citation.volume | 18 | - |
dc.citation.number | 11 | - |
dc.citation.startPage | 2477 | - |
dc.identifier.bibliographicCitation | INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, Vol.18(11) : 2477, 2017-11 | - |
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