Powell J T, Adamson J, MacSweeney S T, Greenhalgh R M, Humphries S E, Henney A
Department of Surgery, Charing Cross and Westminster Medical School, London, U.K.
Eur J Vasc Surg. 1991 Apr;5(2):145-8. doi: 10.1016/s0950-821x(05)80679-6.
Collagens provide the tensile strength of the aortic wall. Variations in collagen structure are recognised in Ehlers Danlos syndrome type IV and could also be associated with a predisposition to aortic aneurysm. The frequency of some minor genetic variants of type III collagen, present in the normal population, can be detected by restriction enzyme digestion of genomic DNA from peripheral leucocytes. The frequency of a minor collagen type III allele demonstrated with the restriction enzyme Ava II was compared in patients with abdominal aortic aneurysm (n = 70) and aortoiliac stenosis (n = 47). The frequency of the minor allele was significantly higher in aneurysm patients (0.30) compared with patients with aortoiliac stenosis (0.17), p less than 0.05. The presence of the minor allele was associated with a less elastic aneurysm wall (median pressure strain elastic modulus 4575, n = 7), compared with patients homozygous for the common allele (median pressure strain elastic modulus 1990, n = 6), p less than 0.05. These results indicate that genetic variants of type III collagen may influence the extensile properties of the aortic wall and that mutations in the type III collagen gene may be associated with aortic aneurysms.
胶原蛋白赋予主动脉壁抗张强度。IV型埃勒斯-当洛综合征中可识别出胶原蛋白结构的变异，其也可能与主动脉瘤的易感性有关。正常人群中存在的一些III型胶原蛋白的微小基因变异的频率，可通过对外周血白细胞基因组DNA进行限制性酶切消化来检测。在腹主动脉瘤患者（n = 70）和主髂动脉狭窄患者（n = 47）中，比较了用限制性酶Ava II显示的III型胶原蛋白微小等位基因的频率。与主髂动脉狭窄患者（0.17）相比，动脉瘤患者中微小等位基因的频率显著更高（0.30），p < 0.05。与常见等位基因纯合子患者（中位压力应变弹性模量1990，n = 6）相比，微小等位基因的存在与弹性较差的动脉瘤壁相关（中位压力应变弹性模量4575，n = 7），p < 0.05。这些结果表明，III型胶原蛋白的基因变异可能影响主动脉壁的伸展特性，并且III型胶原蛋白基因突变可能与主动脉瘤有关。
