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.
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.
authors.forename: Young Seok
authors.initials: YS
authors.lastname: Park
authors.forename: Young Joo
authors.initials: YJ
authors.lastname: Jeon
authors.forename: Hyun Seok
authors.initials: HS
authors.lastname: Kim
authors.forename: In Bo
authors.initials: IB
authors.lastname: Han
authors.forename: Seung-Hun
authors.initials: SH
authors.lastname: Oh
authors.affiliation: Institute for Clinical Research, CHA University School of Medicine, Seongnam, South Korea. dskim33@yuhs.ac.
authors.forename: Dong-Seok
authors.initials: DS
authors.lastname: Kim
authors.forename: Nam Keun
authors.initials: NK
authors.lastname: Kim
mesh_terms: D000293:Adolescent; D000328:Adult; D016022:Case-Control Studies; D002648:Child; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008297:Male; D020778:Matrix Metalloproteinase 2 / Q000235:genetics*; D009072:Moyamoya Disease / Q000453:epidemiology / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D015995:Prevalence; D011401:Promoter Regions, Genetic / Q000235:genetics; D056910:Republic of Korea / Q000453:epidemiology; D019716:Tissue Inhibitor of Metalloproteinase-2 / Q000235:genetics*; D055815:Young Adult
chemical_list: D019716:Tissue Inhibitor of Metalloproteinase-2; D020778:Matrix Metalloproteinase 2