title: MMP-2 gene polymorphisms are associated with type A aortic dissection and aortic diameters in patients.
abstract: Matrix metalloproteinases-2 (MMP-2) plays an important role in the pathogenesis of type A aortic dissection (AD). The aim of this study was to evaluate the association of 3 single nucleotide polymorphisms (SNPs) in the MMP-2 gene with type A AD risk and aortic diameters in patients. We performed a case-control study with 172 unrelated type A AD patients and 439 controls. Three SNPs rs11644561, rs11643630, and rs243865 were genotyped through the MassARRAY platform. Allelic associations of SNPs and SNP haplotypes with type A AD and aortic diameters in patients were evaluated. The frequency of the G allele of the rs11643630 polymorphism was significantly lower in type A AD patients than in control subjects (odds ratio 0.705, 95% confidence interval 0.545-0.912, P = 0.008). The association remained significant after adjusting for clinical covariates (P = 0.008). Carriers of the GG genotype of the rs11643630 polymorphism had significantly smaller aortic diameters than those with GT genotype or TT genotype (P = 0.02). Further haplotype analysis identified 1 protective haplotype (GC; P = 0.008) for development of type A AD. Again, a significant correlation was observed between haplotype GC and AD size (P = 0.020). Our results suggest that MMP-2 gene polymorphisms contribute to type A AD susceptibility. In addition, MMP-2 gene SNPs are associated with AD size, which could be used as a target for the development of new drug therapy.
authors.affiliation: Department of Cardiovascular Surgery, Beijing Lab for Cardiovascular Precision Medicine, Beijing Anzhen Hospital, Capital Medical University, Beijing, China Department of Epidemiology and Biostatistics, Imperial College London, London, UK Beijing Institute of Heart Lung and Blood Vessel Diseases, Beijing, China.
authors.forename: Ou
authors.initials: O
authors.lastname: Liu
authors.forename: Wuxiang
authors.initials: W
authors.lastname: Xie
authors.forename: Yanwen
authors.initials: Y
authors.lastname: Qin
authors.forename: Lixin
authors.initials: L
authors.lastname: Jia
authors.forename: Jing
authors.initials: J
authors.lastname: Zhang
authors.forename: Yi
authors.initials: Y
authors.lastname: Xin
authors.forename: Xinliang
authors.initials: X
authors.lastname: Guan
authors.forename: Haiyang
authors.initials: H
authors.lastname: Li
authors.forename: Ming
authors.initials: M
authors.lastname: Gong
authors.forename: Yuyong
authors.initials: Y
authors.lastname: Liu
authors.forename: Xiaolong
authors.initials: X
authors.lastname: Wang
authors.forename: Jianrong
authors.initials: J
authors.lastname: Li
authors.forename: Feng
authors.initials: F
authors.lastname: Lan
authors.forename: Hongjia
authors.initials: H
authors.lastname: Zhang
mesh_terms: D000483:Alleles; D000784:Aortic Dissection / Q000453:epidemiology / Q000235:genetics* / Q000378:metabolism; D000792:Angiography; D001013:Aorta, Thoracic / Q000000981:diagnostic imaging*; D017545:Aortic Aneurysm, Thoracic / Q000453:epidemiology / Q000235:genetics* / Q000378:metabolism; D002681:China / Q000453:epidemiology; D004247:DNA / Q000235:genetics*; D004452:Echocardiography; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D015994:Incidence; D008279:Magnetic Resonance Imaging; D008297:Male; D020778:Matrix Metalloproteinase 2 / Q000235:genetics* / Q000378:metabolism; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D012189:Retrospective Studies; D012307:Risk Factors; D014057:Tomography, X-Ray Computed
chemical_list: D004247:DNA; D020778:Matrix Metalloproteinase 2