Abstract
BackgroundTo 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].MethodsKorean 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.ResultsA 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.ConclusionsOur findings demonstrate that TIMP-2 -418 GC + CC and MMP-2 -1575GA/-1306CC genotypes could be genetic predisposing factors for MMD development.Electronic supplementary materialThe online version of this article (doi:10.1186/s12883-014-0180-5) contains supplementary material, which is available to authorized users.
Highlights
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)
Several studies have demonstrated that overexpression of matrix metalloproteinase-9 (MMP-9) and underexpression of MMP-3, TIMP-1, and tissue inhibitor of metalloproteinase-2 (TIMP-2) are related to MMD [8,9]
We tested whether SNPs of MMPs 2, 3, and 9 and TIMP-2 were associated with MMD in this study
Summary
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). The presence of a G/C heterozygous genotype at position -418 in the promoter of the tissue inhibitor of metalloproteinase-2 (TIMP-2) gene has been proposed as a genetic predisposing factor for moyamoya disease (MMD) [1], but this association is debated [2]. It is not clear whether there is a genetic effect or an influence of arterial steno-occlusive disease [3]. TIMP dysregulation would disrupt the balance between MMPs and TIMPs and result in erroneous SMC dynamics, and this could subsequently facilitate MMD development [1]. We tested whether SNPs of MMPs 2, 3, and 9 and TIMP-2 were associated with MMD in this study
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