Cabrera Andrea P, Monickaraj Finny, Rangasamy Sampathkumar, Hobbs Sam, McGuire Paul, Das Arup
Department of Surgery/Ophthalmology, University of New Mexico School of Medicine, Albuquerque, NM 87131, USA.
New Mexico VA Health Care System, Albuquerque, NM 87131, USA.
J Clin Med. 2020 Jan 14;9(1):216. doi: 10.3390/jcm9010216.
Although there is strong clinical evidence that the control of blood glucose, blood pressure, and lipid level can prevent and slow down the progression of diabetic retinopathy (DR) as shown by landmark clinical trials, it has been shown that these factors only account for 10% of the risk for developing this disease. This suggests that other factors, such as genetics, may play a role in the development and progression of DR. Clinical evidence shows that some diabetics, despite the long duration of their diabetes (25 years or more) do not show any sign of DR or show minimal non-proliferative diabetic retinopathy (NPDR). Similarly, not all diabetics develop proliferative diabetic retinopathy (PDR). So far, linkage analysis, candidate gene studies, and genome-wide association studies (GWAS) have not produced any statistically significant results. We recently initiated a genomics study, the Diabetic Retinopathy Genetics (DRGen) Study, to examine the contribution of rare and common variants in the development of different phenotypes of DR, as well as their responsiveness to anti-VEGF treatment in diabetic macular edema (DME). Our preliminary findings reveal a novel set of genetic variants involved in the angiogenesis and inflammatory pathways that contribute to DR progression or protection. Further investigation of variants can help to develop novel biomarkers and lead to new therapeutic targets in DR.
尽管有强有力的临床证据表明，如标志性临床试验所示，控制血糖、血压和血脂水平可预防和减缓糖尿病视网膜病变（DR）的进展，但已表明这些因素仅占患此病风险的10%。这表明其他因素，如遗传学，可能在DR的发生和发展中起作用。临床证据显示，一些糖尿病患者尽管糖尿病病程很长（25年或更长时间），但未表现出任何DR迹象或仅表现出轻微的非增殖性糖尿病视网膜病变（NPDR）。同样，并非所有糖尿病患者都会发展为增殖性糖尿病视网膜病变（PDR）。到目前为止，连锁分析、候选基因研究和全基因组关联研究（GWAS）均未产生任何具有统计学意义的结果。我们最近启动了一项基因组学研究，即糖尿病视网膜病变遗传学（DRGen）研究，以研究罕见和常见变异在不同DR表型发生中的作用，以及它们对糖尿病性黄斑水肿（DME）抗VEGF治疗的反应性。我们的初步研究结果揭示了一组新的参与血管生成和炎症途径的遗传变异，这些变异有助于DR的进展或起到保护作用。对这些变异的进一步研究有助于开发新的生物标志物，并为DR带来新的治疗靶点。
