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MMP-2 gene polymorphisms are associated with type A aortic dissection and aortic diameters in patients

机译:MMP-2基因多态性与患者的A型主动脉夹层和主动脉直径相关

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摘要

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.
机译:基质金属蛋白酶2(MMP-2)在A型主动脉夹层(AD)的发病机理中起重要作用。这项研究的目的是评估患者MMP-2基因中的3个单核苷酸多态性(SNP)与A型AD风险和主动脉直径的相关性。我们对172名无关A型AD患者和439名对照进行了病例对照研究。通过MassARRAY平台对三个SNP rs11644561,rs11643630和rs243865进行了基因分型。评估患者中SNP和SNP单倍型与A型AD和主动脉直径的等位基因关联。 rs11643630多态性的G等位基因频率在A型AD患者中显着低于对照组(优势比0.705,95%置信区间0.545-0.912,P = 0.008)。校正临床协变量后,该关联仍然很显着(P = 0.008)。 rs11643630多态性的GG基因型携带者的主动脉直径显着小于GT基因型或TT基因型的携带者(P = 0.02)。进一步的单倍型分析鉴定出1种保护性单倍型(GC; P = 0.008)用于A型AD的发展。再次,在单倍型GC和AD大小之间观察到显着相关性(P = 0.020)。我们的结果表明,MMP-2基因多态性有助于A型AD易感性。此外,MMP-2基因的SNP与AD大小有关,可以用作开发新药物疗法的靶标。

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