GENETICS OF DIABETIC RETINOPATHY IN HISPANICS

这个子项目是许多研究子项目中利用 资源由NIH/NCRR资助的中心拨款提供。子项目和 调查员(PI)可能从NIH的另一个来源获得了主要资金， 并因此可以在其他清晰的条目中表示。列出的机构是 该中心不一定是调查人员的机构。 糖尿病视网膜病变(视网膜眼病，DR)是美国20-74岁人群失明的主要原因。虽然视网膜病变在1型糖尿病中更为常见，但大多数新病例是由2型糖尿病(T2 DM)引起的。然而，严重形式的DR只发生在大约三分之一的患者中，即似乎在遗传上易患进展性疾病的亚群。虽然其他因素也起到了一定作用，如血糖控制和高血压，但这项建议将重点研究DR的遗传学，这项拨款将研究拉美裔人群，因为拉美裔人群有很强的患T2 DM和DR的倾向。这项建议是三个中心共同努力的结果：La Bimed，这是临床表型中心，威斯康星大学，它是眼睛流行病学阅读中心和Cedars-Sinai医学中心，将在那里进行基因测试。 我们将进行全基因组搜索，以确定基因组中可能与DR连锁的候选区域。非参数同胞对连锁分析和方差分量连锁分析将用于识别可能包含与DR相关的基因的区域。 该项目的成功完成有望导致对DR易感的新基因(S)的定位的初始阶段。对这些基因产物的表征将增强我们对DR发病机制的理解，并有可能导致新的预防和治疗策略的开发。

This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. Diabetic Retinopathy (retinal eye disease, DR) is the leading cause of blindness in people aged 20-74 years in the United States. Although retinopathy is more common in type 1 diabetes, the majority of new cases are due to type 2 diabetes (T2DM). Severe forms of DR occur only, however, in approximately one-third of patients, i.e., a subgroup that appears to be genetically predisposed to progressive disease. Although other factors also play a role in the development of DR, such as glucose control and high blood pressure, this proposal will focus on studying genetics of DR. The Hispanic population will be studied in this grant because Latinos have a strong propensity for development of both T2DM and DR. This proposal is a joint effort among three centers: LA Biomed, which is the Clinical Phenotyping Center, the University of Wisconsin, which houses the Ocular Epidemiology Reading Center and Cedars-Sinai Medical Center, where the genetic testing will be done. We will peform a genome-wide search to identify candidate regions in the genome that may be linked with DR. Non-parametric sib-pair linkage analysis and variance components linkage analysis will be utilized to identify regions that may contain genes contributing to DR. Successful completion of this project is anticipated to result in the initial phase in locating novel gene(s) that confer susceptibility to DR. Characterization of the products of these genes will enhance our understanding of the pathogenesis of DR and has the potential to lead to the development of new preventive and therapeutic strategies.