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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.    Electronic supplementary material  The online version of this article (doi:10.1186/s12883-014-0180-5) contains supplementary material, which is available to authorized users.

bmc neurology

The GC + CC genotype at position -418 in TIMP-2 promoter and the -1575GA/-1306CC genotype in MMP-2is genetic predisposing factors for prevalence of moyamoya disease