Association of the polymorphisms of MMP-9 and TIMP-3 genes with thoracic aortic dissection in Chinese Han population

• Published in: Acta pharmacologica Sinica 2014-03, Vol.35 (3), p.351-355
• Main Authors: Wang, Xiao-long, Liu, Ou, Qin, Yan-wen, Zhang, Hong-jia, Lv, Yi
• Format: Article
• Language: English
• Subjects: Adolescent; Adult; Aged; Aneurysm, Dissecting - diagnosis; Aneurysm, Dissecting - enzymology; Aneurysm, Dissecting - ethnology; Aneurysm, Dissecting - genetics; Aortic Aneurysm, Thoracic - diagnosis; Aortic Aneurysm, Thoracic - enzymology; Aortic Aneurysm, Thoracic - ethnology; Aortic Aneurysm, Thoracic - genetics; Asian Continental Ancestry Group - genetics; Biomedical and Life Sciences; Biomedicine; Case-Control Studies; China - epidemiology; Female; Gene Frequency; Genetic Association Studies; Genetic Predisposition to Disease; Humans; Immunology; Internal Medicine; Male; Matrix Metalloproteinase 9 - genetics; Medical Microbiology; Middle Aged; MMP-9; Original; original-article; Pharmacology/Toxicology; Phenotype; Polymorphism, Single Nucleotide; Risk Factors; Sex Factors; TIMP-3; Tissue Inhibitor of Metalloproteinase-3 - genetics; Vaccine; Young Adult; 中国汉族人群; 主动脉; 单核苷酸多态性; 基因分型; 基质金属蛋白酶; 夹层
• ISSN: 1671-4083; 1745-7254
• DOI: 10.1038/aps.2013.179

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-Weinbergl 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.