主动脉夹层的基因研究是探索该疾病病因的重要方面。近年来的研究通过基因芯片筛选寻找研究相关基因,再逐一对相关基因进行多态性研究,试图找到与主动脉夹层有高度关联的基因突变,从而解释主动脉夹层的发生及发展。结果显示主动脉夹层是多基因疾病,多基因共同作用、相互协调促进主动脉夹层的形成。另有一些与主动脉夹层密切相关的基因易感性疾病同时也印证其基因的改变及作用。
Genetic study can provide important insight into the etiology of aortic dissection. To explore the pathogenesis and natural history of aortic dissection, a number of genes have been identified through microarray chip screening and undergone testing of polymorphisms to find mutations strongly associated with the disease. The results suggested aortic dissection to be a multi-gene disorder. Multiple genes probably work together to promote its development. Several diseases with a genetic predisposition are closely connected with aortic dissection, which also implied a role of genetic changes and malfunction in this disease.