Powell J T, Greenhalgh R M
Department of Surgery, Charing Cross Hospital, London.
Chirurg. 1995 Sep;66(9):841-4.
Clear evidence has not yet come concerning the genetics of abdominal aortic aneurysms (AAA). There are circumstantial proof for a hereditary predisposition. In a retrospective study of sixty patients consecutively underwent a surgical repair for AAA, showed that one third of them knew a first-degree relative with the same disease. Environmental factors, such as smoking, ageing or hypertension, must be taken into account. A multifactorial mode of inheritance is under discussion due to both multiple genes with different expressivity and diverse environmental factors. Linkage-analysis or DNA sequencing of the different gene loci in population studies or sibbling-analysis are the tools in search for candidate genes for inheritance of AAA. Mutations in those genes encoding structural components of the aortic wall, such as collagen-type-III, fibrillin or elastin, are not taken to be the underligned genetic cause. Mutations in genes encoding enzymes for the turnover of the aortic wall components, such as alpha-1-antitrypsin or matrix-metalloproteinase-2, may play an important role.
关于腹主动脉瘤（AAA）的遗传学，尚未有确凿证据。有一些间接证据表明存在遗传易感性。在一项对60例连续接受AAA手术修复患者的回顾性研究中，发现其中三分之一的患者有患相同疾病的一级亲属。必须考虑环境因素，如吸烟、衰老或高血压。由于存在具有不同表达性的多个基因以及多种环境因素，目前正在讨论多因素遗传模式。在人群研究或同胞分析中，对不同基因位点进行连锁分析或DNA测序，是寻找AAA遗传候选基因的工具。那些编码主动脉壁结构成分的基因，如III型胶原蛋白、原纤蛋白或弹性蛋白的突变，不被认为是潜在的遗传原因。而编码主动脉壁成分代谢酶的基因，如α-1抗胰蛋白酶或基质金属蛋白酶-2的突变，可能起重要作用。
