Original Article

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

Authors: Xiao-long Wang, Ou Liu, Yan-wen Qin, Hong-jia Zhang, Yi Lv
DOI: 10.1038/aps.2013.179


Xiao-long WANG1, 2, #, Ou LIU2, 3, #, Yan-wen QIN2, Hong-jia ZHANG2, *, Yi LV1, 2, *
1Department of Hepatobiliary Surgery, the First Affiliated Hospital of Medical College, Xi-an Jiaotong University, Xi-an 710000, China; 2Department of Cardiovascular Surgery, Beijing An Zhen Hospital, Capital Medical University, Beijing 100029, China; 3The Key Laboratory of Remodeling-related Cardiovascular Diseases, Capital Medical University, Ministry of Education, Beijing 100029, China

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.

Keywords: aortic dissection; genetic variation; SNP; MMP-9; TIMP-3; Chinese population

This study was supported by grants from the National Natural Science Foundation of China (81170283 and 81070251), the Beijing Natural Science Foundation (7112041), the Program for New Century Excellent Talents in University (NCET-11-0899), the Program for Changjiang Scholars and Innovative Research Team in University (IRT1074) and the Scientific Research Common Program of Beijing Municipal Commission of Education (SQKM201210025017). The authors thank all the volunteers who participated in the study.
# These authors contributed equally to this work.
* To whom correspondence should be addressed.
E-mail zhanghongjia722@hotmail.com (Hong-jia ZHANG); luyi169@126.com (Yi LV)
Received 2013-07-06 Accepted 2013-11-06

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