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糖尿病视网膜病变(DR)是世界工作年龄段成年人不可逆性视力丧失的常见原因之一,约占全球盲的4.8％.随着病情进展,绝大多数糖尿病患者会出现DR.流行病学研究表明,DR的严重程度与血糖水平及糖尿病持续时间密切相关,然而越来越多的证据表明遗传因素在DR的发生和发展过程中起着重要作用.随着基因多态性与DR关系研究的不断深入,截至2018年3月1日,从PubMed网人类孟德尔遗传学在线已筛查出数十种与DR有关的基因和遗传变异,包括血管内皮生长因子、醛糖还原酶、晚期糖基化终产物受体、线粒体硫氧还蛋白抗氧化系统、单核细胞趋化蛋白-1、白细胞介素(IL)-6和IL-8等基因,其中部分基因多态性已经被证实为糖尿病患者发生DR的遗传性危险因素.现将与DR密切相关的基因多态性研究进展进行综述.“,”Diabetic retinopathy (DR) is the common cause of irreversible vision loss in adults during working age,accounting for 4.8％ of global blindness.With the progress of disease,most patients with diabetes mellitus will eventually lead to DR.Epidemiological studies have shown that the severity of DR is closely related to blood glucose levels and duration of diabetes,but there is growing evidence that genetic factors play an important role in the development and progression of DR.As the relationship between genetic polymorphism and DR constantly deepen,dozens of DR-related genes and genetic variations have been screened out from the PubMed Network Human Mendel Genetics Online till March 1,2018,including vascular endothelial growth factor,aldose reductase,receptor for advanced glycation end products,mitochondrial thioredoxin antioxidant system,monocyte chemoattractant protein-1,interleukin (IL)-6,IL-8 and other genes,some genetic polymorphisms have been identified as a genetic risk factor for DR in diabetic patients.The progress of genetic polymorphisms closely related to DR was summarized.