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The GC + CC genotype at position -418 in TIMP-2 promoter and the -1575GA/-1306CC genotype in MMP-2 is genetic predisposing factors for prevalence of moyamoya disease
DC Field | Value | Language |
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dc.contributor.author | 김동석 | - |
dc.date.accessioned | 2015-01-06T17:29:38Z | - |
dc.date.available | 2015-01-06T17:29:38Z | - |
dc.date.issued | 2014 | - |
dc.identifier.uri | https://ir.ymlib.yonsei.ac.kr/handle/22282913/100083 | - |
dc.description.abstract | BACKGROUND: To investigate the association of single-nucleotide polymorphisms (SNPs) in matrix metalloproteinases (MMPs)-2, -3, and -9 and tissue inhibitor of metalloproteinase (TIMP)-2 with moyamoya disease (MMD). We conducted a case-control study of MMD patients by assessing the prevalence of six SNPs of MMP-2 -1575G > A [rs243866], MMP-2 -1306C > T [rs243865], MMP-3 -1171 5a/6a [rs3025058], MMP-9 -1562C > T [rs3918242], MMP-9 Q279R [rs17576], and TIMP-2 -418G > C [rs8179090]. METHODS: Korean patients with MMD (n = 107, mean age, 20.9 ± 15.9 years; 66.4% female) and 243 healthy control subjects (mean age, 23.0 ± 16.1 years; 56.8% female) were included. The subjects were divided into pediatric and adult groups. The genotyping of six well-known SNPs (MMP-2 -1575G > A, MMP-2 -1306C > T, MMP-3 -1171 5a/6a, MMP-9 -1562C > T, MMP-9 Q279R, and TIMP-2 -418G > C) in MMP and TIMP genes was performed by polymerase chain reaction-restriction fragment length polymorphism assays. RESULTS: A significantly higher frequency of the GC genotype for TIMP-2 -418 G > C was found in MMD patients. The MMP-9 Q279R GA + AA genotype showed a protective effect for MMD. The GA/CC MMP-2 -1575/-1306 genotype was significantly more prevalent in MMD patients. CONCLUSIONS: Our findings demonstrate that TIMP-2 -418 GC + CC and MMP-2 -1575GA/-1306CC genotypes could be genetic predisposing factors for MMD development. | - |
dc.description.statementOfResponsibility | open | - |
dc.format.extent | 1~8 | - |
dc.relation.isPartOf | BMC NEUROLOGY | - |
dc.rights | CC BY-NC-ND 2.0 KR | - |
dc.rights.uri | https://creativecommons.org/licenses/by-nc-nd/2.0/kr/ | - |
dc.subject.MESH | Adolescent | - |
dc.subject.MESH | Adult | - |
dc.subject.MESH | Case-Control Studies | - |
dc.subject.MESH | Child | - |
dc.subject.MESH | Female | - |
dc.subject.MESH | Genetic Predisposition to Disease | - |
dc.subject.MESH | Genotype | - |
dc.subject.MESH | Humans | - |
dc.subject.MESH | Male | - |
dc.subject.MESH | Matrix Metalloproteinase 2/genetics* | - |
dc.subject.MESH | Moyamoya Disease/epidemiology | - |
dc.subject.MESH | Moyamoya Disease/genetics* | - |
dc.subject.MESH | Polymorphism, Single Nucleotide | - |
dc.subject.MESH | Prevalence | - |
dc.subject.MESH | Promoter Regions, Genetic/genetics | - |
dc.subject.MESH | Republic of Korea/epidemiology | - |
dc.subject.MESH | Tissue Inhibitor of Metalloproteinase-2/genetics* | - |
dc.subject.MESH | Young Adult | - |
dc.title | The GC + CC genotype at position -418 in TIMP-2 promoter and the -1575GA/-1306CC genotype in MMP-2 is genetic predisposing factors for prevalence of moyamoya disease | - |
dc.type | Article | - |
dc.contributor.college | College of Medicine (의과대학) | - |
dc.contributor.department | Dept. of Neurosurgery (신경외과학) | - |
dc.contributor.googleauthor | Young Seok Park | - |
dc.contributor.googleauthor | Young Joo Jeon | - |
dc.contributor.googleauthor | Hyun Seok Kim | - |
dc.contributor.googleauthor | In Bo Han | - |
dc.contributor.googleauthor | Seung-Hun Oh | - |
dc.contributor.googleauthor | Dong-Seok Kim | - |
dc.contributor.googleauthor | Nam Keun Kim | - |
dc.identifier.doi | 10.1186/s12883-014-0180-5 | - |
dc.admin.author | false | - |
dc.admin.mapping | false | - |
dc.contributor.localId | A00402 | - |
dc.relation.journalcode | J00368 | - |
dc.identifier.eissn | 1471-2377 | - |
dc.identifier.pmid | 25280484 | - |
dc.subject.keyword | Moyamoya disease | - |
dc.subject.keyword | Tissue inhibitor of metalloproteinase | - |
dc.subject.keyword | Matrix metalloproteinases | - |
dc.subject.keyword | Polymorphism | - |
dc.contributor.alternativeName | Kim, Dong Seok | - |
dc.contributor.affiliatedAuthor | Kim, Dong Seok | - |
dc.citation.volume | 14 | - |
dc.citation.number | 180 | - |
dc.citation.startPage | 1 | - |
dc.citation.endPage | 8 | - |
dc.identifier.bibliographicCitation | BMC NEUROLOGY, Vol.14(180) : 1-8, 2014 | - |
dc.identifier.rimsid | 50128 | - |
dc.type.rims | ART | - |
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