Clinical Analysis Of The Han Population Of Aortic Dissection As Well As Metalloproteinase-1, Methylenetetrahydrofolate Reductase And Angiopoietin-1 Gene Polymorphism And Plasma Homocysteine ​​association Studies

BackgroundAortic dissection (AD) is a life-threatening aortic disease, the incidence of AD has been increased in recent years. The clinical features of AD are very complicated, but at present, there is little studies about this in China. AD is a multiple genetic disease, the genes which are involved in destruction of elastic and collagen fibers and smooth muscle cells, endothelium injury, atherosclerosis and vascular maturation and stabilization are considered as candidate gene of AD.The matrix metalloproteinases-1 (MMP-1) is collagenase-1, it digests fibrillar native types â…  and â…¢ collagen, the activation of MMP-1 is the initial step of MMPs activation, so MMP-1 can weak aortic wall and result in aortic artery rupture and AD. One possible mechanism that could affect mRNA abundance is the regulation of mRNA stability through sequence variation within the 3'-untranslated region (3'-UTR). The Single nucleotide polymorphisms (SNP) of MMP-1 7936C/T in 3'untranslated region is considered to be related to the increase of MMP-1 gene transcription and translation. High level of plasma homocysteine(Hcy) may induce intimal injury, activate elastase, and increase calcium deposition, weak the extracellular matrix of the vascular wall and damage the elastin and fibrillin of aortic media. A genotype-phenotype relationship between Hey plasma level and Methylene tetrahydrofolate reductase (MTHFR) 677 C/T polymorphism was observed. Several studies have proved 677T homozygotes and elevated homocysteine plasma levels had close relationship with aneurysm and AD. Angiopoietin-1 (Angpt-1) belongs to Angiopoietin family and effects on Tie-2 receptor, Ang-1 has effect on vascular development, promotes vascular remodeling, maturation and stabilization, it also blocks the leak-inducing action of vascular endothelial growth factor (VEGF) and promotes endothelial cell survival. ANGPT-1 2914C/G SNP is in the 3'-untranslated region (3'-UTR) and may influence the expression of ANGPT-1. There are no study on SNPs in Chinese patients with AD recently.