中国汉族人群中基质金属蛋白酶-9（MMP-9）和金属蛋白酶组织抑制因子-3（TIMP-3）基因多态性与胸主动脉夹层的相关性
Association of the polymorphisms of MMP-9 and TIMP-3 genes with thoracic aortic dissection in Chinese Han population.
作者信息
Wang Xiao-long, Liu Ou, Qin Yan-wen, Zhang Hong-jia, Lv Yi
机构信息
1] Department of Hepatobiliary Surgery, the First Affiliated Hospital of Medical College, Xi-an Jiaotong University, Xi-an 710000, China [2] Department of Cardiovascular Surgery, Beijing An Zhen Hospital, Capital Medical University, Beijing 100029, China.
1] Department of Cardiovascular Surgery, Beijing An Zhen Hospital, Capital Medical University, Beijing 100029, China [2] The Key Laboratory of Remodeling-related Cardiovascular Diseases, Capital Medical University, Ministry of Education, Beijing 100029, China.
出版信息
Acta Pharmacol Sin. 2014 Mar;35(3):351-5. doi: 10.1038/aps.2013.179. Epub 2014 Feb 3.
AIM
Thoracic aortic dissection (TAD) is the most common life-threatening disorder, and a shifted balance of matrix metalloproteinases (MMPs) and tissue inhibitors of metalloproteinases (TIMPs) is involved in TAD pathogenesis. The aim of this study was to evaluate the association of 4 single-nucleotide polymorphisms (SNPs) in MMP-9 and TIMP-3 genes with TAD risk in Chinese Han population.
METHODS
A total of 206 Chinese patients with TAD and 180 controls were included in this study. Four SNPs (rs3918249, rs2274756, rs9609643 and rs8136803) were genotyped using high-throughput MALDI-TOF mass spectrometry. Allele and genotype association analyses were conducted using PLINK.
RESULTS
All the 4 SNPs resulted in Hardy-Weinberg equilibrium in patients and controls. The G allele frequency for the MMP-9 SNP rs2274756 was significantly higher in female TAD patients than in female controls (P=0.0099). Moreover, after adjusting for traditional cardiovascular risk factors (sex, age, hypertension, dyslipidemia, diabetes and smoking habit), the rs2274756 polymorphism (odds ratio: 0.30; 95% confidence interval: 0.11 to 0.79, P=0.015) resulted in an independent susceptibility factor for TAD in females. No associations were found between the other SNPs and TAD.
CONCLUSION
The results provide strong evidence for an association between MMP-9 SNP rs2274756 and female TAD risk in Chinese Han population.
目的
胸主动脉夹层（TAD）是最常见的危及生命的疾病，基质金属蛋白酶（MMPs）和金属蛋白酶组织抑制剂（TIMPs）之间平衡的改变参与了TAD的发病机制。本研究的目的是评估MMP-9和TIMP-3基因中的4个单核苷酸多态性（SNPs）与中国汉族人群TAD风险的相关性。
方法
本研究共纳入206例中国TAD患者和180例对照。使用高通量基质辅助激光解吸电离飞行时间质谱法对4个SNPs（rs3918249、rs2274756、rs9609643和rs8136803）进行基因分型。使用PLINK进行等位基因和基因型关联分析。
结果
所有4个SNPs在患者和对照中均符合哈迪-温伯格平衡。MMP-9 SNP rs2274756的G等位基因频率在女性TAD患者中显著高于女性对照（P = 0.0099）。此外，在调整传统心血管危险因素（性别、年龄、高血压、血脂异常、糖尿病和吸烟习惯）后，rs2274756多态性（比值比：0.30；95%置信区间：0.11至0.79，P = 0.015）成为女性TAD的独立易感因素。未发现其他SNPs与TAD之间存在关联。
结论
结果为MMP-9 SNP rs2274756与中国汉族人群女性TAD风险之间的关联提供了有力证据。
Zotero 插件