Genetic Susceptibility for Development of Proliferative Diabetic Retinopathy

受糖尿病影响的个人人数正在以流行的比例上升，特别是在美国的拉丁裔人口中。糖尿病视网膜病变是糖尿病最具破坏性的并发症之一，也是美国劳动年龄人群失明的主要原因。即使考虑了其他风险因素，如血糖水平，与其他种族相比，拉丁裔似乎也有更高的糖尿病视网膜病变发生率。国家眼科研究所资助的一项对洛杉矶拉丁裔成年人的研究显示，近一半的拉丁裔糖尿病患者有糖尿病视网膜病变的证据。遗传因素被认为在糖尿病和糖尿病视网膜病变的发展中发挥了作用，并可能解释了拉丁裔人口发展这些问题的明显风险增加的原因。我们假设，通过研究糖尿病最严重的表型或晚期并发症的患者，可能有助于识别影响最强的等位基因。在目前的研究计划中，我们建议通过关注南加州受严重糖尿病微血管并发症-增殖性糖尿病视网膜病变(PDR)影响的拉丁裔人群来确定糖尿病视网膜病变的遗传危险因素。我们的目标将是招募一大批仔细的表型病例和对照，这些病例和对照可以在随后的全基因组关联研究中进行评估，以确定使个体容易发生PDR的遗传变异。

The number of individuals affected by diabetes mellitus is rising at epidemic proportions, particularly in the Latino population of the United States. Diabetic retinopathy is one of most devastating complications of diabetes and is the leading cause of blindness in working age Americans. Even after accounting for other risk factors, such as blood sugar levels, Latinos appear to have higher rates of diabetic retinopathy compared with other ethnic groups. A National Eye Institute–funded study of Latino adults in Los Angeles revealed that nearly half of all Latino diabetics had evidence of diabetic retinopathy. Genetic factors have been suggested to play a role in the development of diabetes and diabetic retinopathy and may explain the apparent increased risk of developing these problems in the Latino population. We have hypothesized that identification of alleles with the strongest effect may be facilitated by studying patients with the most severe phenotypes or advanced complications of diabetes. In the present research program we propose to identify genetic risk factors for diabetic retinopathy by focusing on the Latino population in southern California who are affected by a severe diabetic microvascular complication, proliferative diabetic retinopathy (PDR). Our goal will be to recruit a large cohort of carefully phenotyped cases and controls which can be evaluated in subsequent genome wide association studies to identify genetic variants that predispose individuals to develop PDR.