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Background: Moyamoya disease (MMD) is an uncommon cerebrovascular disease characterized by progressive stenosis of the intracranial internal carotid arteries and their proximal branches.The etiology and pathogenesis of MMD remain unclear,but the importance of genetic factors is being increasingly recognized.We aimed to examine the association of single nucleotide polymorphisms (SNPs) in matrix metalloproteinase (MMP) and tissue inhibitors of metalloproteinase (TIMP) genes with MMD occurrence.Methods: A case-control study was performed.Five functional promoter polymorphisms in the MMP-2,MMP-3,MMP-9 and MMP-13 genes and a potentially functional promoter polymorphism in the TIMP-2 gene were determined by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP).Their associations with MMD were analyzed by multivariate logistic regression.Results: Totally 208 patients with MMD (including 31 familial MMD (FMMD) patients) and 224 healthy subjects were recruited.The frequency of the MMP-3 5A/6A and 5A/5A genotypes was significantly lower in MMD patients (OR=0.57,95% CI 0.38-0.86,Pcorr=0.042) compared with healthy controls in dominant genetic model.Significant differences of the MMP-3 5A/6A polymorphism were also detected between FMMD patients and controls both in dominant genetic model (OR=0.23,95% CI 0.08-0.68,Pcorr=0.048) and additive genetic model (OR=0.24,95% CI 0.08-0.69,Pcorr=0.048).Conclusion: The functional polymorphism in the MMP-3 promoter may be associated with susceptibility to both MMD and FMMD in Chinese Han population.The findings need to be validated in further studies including more subjects from different populations.