Association between matrix metalloproteinase-3 gene polymorphism and moyamoya disease

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.