title: Association between matrix metalloproteinase-3 gene polymorphism and moyamoya disease.
abstract: Genetic factors play an important role in the etiology and pathogenesis of moyamoya disease (MMD). Recently, several studies suggested the decreased expression of matrix metalloproteinase-3 (MMP3) was associated with an increased risk of MMD. This case-control study was performed to examine the association between MMP3 polymorphisms and the risk of MMD, comparing 86 Han Chinese MMD patients and 86 controls. We further conducted a meta-analysis, combining our results with all previous studies to provide a more precise estimate of this association. In our case-control study, MMP3 6A/6A (odds ratio [OR]=1.93, 95% confidence interval [CI] 1.00-3.72; p=0.05) and 6A allele frequencies (OR=1.78, 95%CI 1.00-3.14; p=0.05) in the MMD group were significantly higher than those in the control group. In the additional meta-analysis, only two other studies were identified. Meta-analysis with a total of 796 patients revealed 6A allele and 6A/6A genotype significantly increased the risk of MMD (OR=1.64, 95% CI 1.26-2.13, p=0.0002 and OR=1.79, 95% CI 1.32-2.42, p=0.0002, respectively). To confirm this finding, an additional analysis should be performed using a larger sample size. Moreover, larger and well-designed multicentric studies based on different races should be performed to evaluate the racial difference.
authors.affiliation: Department of Neurosurgery, West China Hospital, Sichuan University, 37 Guoxuexiang Street, Chengdu 610041, China.
authors.forename: Junpeng
authors.initials: J
authors.lastname: Ma
authors.affiliation: Department of Neurosurgery, West China Hospital, Sichuan University, 37 Guoxuexiang Street, Chengdu 610041, China. Electronic address: youchao028@163.com.
authors.forename: Chao
authors.initials: C
authors.lastname: You
mesh_terms: D016022:Case-Control Studies; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008297:Male; D019278:Matrix Metalloproteinase 3 / Q000235:genetics*; D009072:Moyamoya Disease / Q000235:genetics*; D016017:Odds Ratio; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length; D012306:Risk; D017422:Sequence Analysis, DNA
chemical_list: C511768:MMP3 protein, human; D019278:Matrix Metalloproteinase 3
keywords: MMP; Moyamoya disease; Polymorphisms