基质金属蛋白酶基因多态性与主动脉夹层的研究进展

主动脉夹层（Aorticdissection，AD）为最危险的主动脉疾病之一，病死率较高，且发病率呈逐年上升的趋势。越来越多的证据表明遗传因素影响该疾病的发生及发展，基因多态性为该疾病的遗传易感因素之一。主动脉夹层患者可观察到主动脉中膜的退化，当主动脉结构发生改变时，必然导致一系列的病理生理反应，进而影响其功能。细胞外基质（Extracellularmatrix，ECM）是由弹性纤维和胶原纤维组成的，可以保持主动脉管壁的稳定性。主动脉夹层的发生与ECM的代谢平衡有关，降解ECM的酶为基质金属蛋白酶（Matrixmetalloproteinases，MMPs），这种酶在主动脉的重塑过程中也发挥作用，与夹层的发生密切相关。单核苷酸多态性（singlenucleotidepolymorphism，SNP）作为遗传学标记，可以预测该疾病的发生，指导该疾病的临床研究方向，对于易感性较高的患者可进行早期的预防及监测，在AD的预防及治疗方面发挥重大作用。本文对基质金属蛋白酶基因多态性与主动脉夹层之间的关系做一综述．

The Polymorphism of the Matrix Metalloproteinases in Aortic Dissection＊

Aortic dissection is one of the most dangerous diseases in the aorta lesion, which has high fatality, and shows an increasing trend in the incidence of the disease. Growing number of evidence indicate that genetic factors influence the development of aortic dissection, genetic polymorphisms becomes one of the genetic susceptibility factors. Medium degradation was observed in patients with aortic dissection, when the structure of aortic was changed, it will inevitably lead to a series of pathophysiological responses, thereby affecting the function of aortic. The extracellular matrix is composed of elastic and collagen fibers, which can maintain the stability of the aortic wall. The incidence of aortic dissection is related to the balance of extracellular matrix metabolic, Enzymes which can degradate of the extracellular matrix is matrix metalloproteinase, which closely related with the occurrence of dissection, is also play a role in aortic remodeling process. Single nucleotide polymorphisms as genetic markers play a major role in the prevention and treatment of AD and that can predict the occurrence of this disease, guiding the direction of the clinical studies, early preventing and monitoring patients with higher susceptibility. In this paper, we discuss the relationship between matrix metalloproteinase and genetic polymorphism in aortic dissection.