Taverna M J
Laboratoire de Diabétologie, INSERM U.341, Hôpital Hôtel-Dieu, 75004 Paris.
Ann Endocrinol (Paris). 2004 Feb;65(1 Suppl):S17-25. doi: 10.1016/s0003-4266(04)95997-5.
Multiple clinical and physiopathological studies as well as genetic analysis, suggest that diabetic retinopathy (DR) is a consequent of interactions between environmental factors, especially hyperglycaemia, and several genetic factors. The genes of aldose reductase (AR), inducible nitric oxide synthase (NOS2A), endothelial nitric oxide synthase (NOS3), vascular endothelial growth factor (VEGF), pigmented epithelium-derived factor (PEDF), protein kinase C-beta (PKC-beta) and receptor for advanced glycation end products (RAGE) implicated in the pathogenesis of DR. The only genetic marker associated with risk of DR in several studies is a microsatellite (A-C)n at 5'end of AR. The synergistic combination of conventional approaches (e.g. candidate gene association studies) with new emerging technologies (e.g. biochips) will be a key factor in the elucidation of the genetic aspects of DR.
多项临床和生理病理学研究以及基因分析表明,糖尿病视网膜病变(DR)是环境因素(尤其是高血糖)与多种基因因素相互作用的结果。醛糖还原酶(AR)、诱导型一氧化氮合酶(NOS2A)、内皮型一氧化氮合酶(NOS3)、血管内皮生长因子(VEGF)、色素上皮衍生因子(PEDF)、蛋白激酶C-β(PKC-β)和晚期糖基化终末产物受体(RAGE)的基因与DR的发病机制有关。在多项研究中,唯一与DR风险相关的基因标记是AR 5'端的微卫星(A-C)n。传统方法(如候选基因关联研究)与新兴技术(如生物芯片)的协同结合将是阐明DR遗传因素的关键因素。