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.