The rs9509 polymorphism of MMP-9 is associated with risk of hemorrhage in brain arteriovenous malformations
The rs9509 polymorphism of MMP-9 is associated with risk of hemorrhage in brain arteriovenous malformations
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MMP-9 的 rs9509 多态性与脑动静脉畸形的出血风险相关。
DOI：
10.1016/j.jocn.2011.09.036
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发表时间：
2012-09-01
影响因子：
2
通讯作者：
Mao, Ying
中科院分区：
文献类型：
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作者：
Sun, Bing;Qiu, Huijia;Mao, Ying
我们研究了基质金属蛋白酶9（MMP-9）和金属蛋白酶组织抑制剂4（TIMP-4）基因的单核苷酸多态性（SNP）是否与脑动静脉畸形（BAVM）患者颅内出血（ICH）的风险相关。我们使用Mass-ARRAY基因分型系统（Sequenom，San Diego，CA，USA）对311例BAVM患者的MMP-9和TIMP-4的11个选择的SNP进行基因分型。使用逻辑回归分析评估每个基因型与出血风险之间的关联。多变量logistic回归分析显示，在BAVM患者中，MMP-9_rs9509与ICH显著相关，调整了BAVM大小、静脉引流类型、年龄和性别（调整后的比值比[OR] = 0.19; 95%置信区间[CI] = 0.05-0.66; CC与IT基因型相比，p = 0.009）。然而，在Bonferroni校正后，相关性不显著（p = 0.072），在单变量模型中也不显著（p = 0.064）。TIMP-4_rs3755724多态性在多变量模型中没有统计学显著性影响（CT与TT基因型相比，校正OR = 0.57; 95%CI = 0.32-1.01; p = 0.055）。总体得分检验没有发现这两个基因的单倍型频率分布有任何统计学显著差异。我们的研究结果表明MMP-9_rs9509多态性可能与BAVM患者的ICH相关。(C)2012爱思唯尔有限公司保留所有权利。
We examined whether single nucleotide polymorphisms (SNP) of the matrix metalloproteinase 9 (MMP-9) and and tissue inhibitor of metalloproteinase 4 (TIMP-4) genes are associated with risk of intracranial hemorrhage (ICH) among patients with brain arteriovenous malformation (BAVM). For 311 Chinese patients with BAVM, we performed genotyping analysis for 11 selected SNP of MMP-9 and TIMP-4 using the Mass-ARRAY genotyping system (Sequenom, San Diego, CA, USA). Associations between each genotype and risk of hemorrhage were evaluated using logistic regression analysis. Multivariate logistic regression analysis revealed that MMP-9_rs9509 was significantly associated with ICH among patients with BAVM with adjustments for BAVM size, venous drainage type, age and sex (adjusted odds ratio [OR] = 0.19; 95% confidence interval [CI] = 0.05-0.66; p = 0.009 for CC compared with IT genotype). However, the association was not significant (p = 0.072) after Bonferroni correction and was not significant (p = 0.064) in the univariate model. The TIMP-4_rs3755724 polymorphism did not have a statistically significant effect in the multivariate model (adjusted OR = 0.57; 95% CI = 0.32-1.01; p = 0.055 for CT compared with TT genotype). The global score test did not reveal any statistically significant differences in haplotype frequency distributions for these two genes. Our findings suggest that the MMP-9_rs9509 polymorphism may be associated with ICH in patients with BAVM. (C) 2012 Elsevier Ltd. All rights reserved.