GENETICS OF DIABETIC RETINOPATHY IN HISPANICS

这个子项目是许多利用 由NIH/NCRR资助的中心赠款提供的资源。子项目和 研究者（PI）可能从另一个NIH来源获得了主要资金， 因此可以在其他CRISP条目中表示。所列机构为 研究中心，而研究中心不一定是研究者所在的机构。 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型糖尿病中更常见，但大多数新发病例是由于2型糖尿病（T2 DM）。 然而，严重形式的DR仅发生在约三分之一的患者中，即，一个似乎在遗传上易患进行性疾病的亚组。 虽然其他因素也在DR的发展中发挥作用，如葡萄糖控制和高血压，但该提案将重点研究DR的遗传学。西班牙裔人口将在该补助金中进行研究，因为拉丁美洲人对T2 DM和DR的发展有很强的倾向。洛杉矶生物医学中心是临床表型分析中心，威斯康星州大学设有眼部流行病学阅读中心和雪松西奈医学中心，基因检测将在那里进行。 我们将进行全基因组搜索，以确定可能与DR相关的基因组中的候选区域。非参数同胞对连锁分析和方差分量连锁分析将用于确定可能包含DR相关基因的区域。 该项目的成功完成，预计将导致在初始阶段定位新的基因（S），赋予易感性DR。表征这些基因的产品将提高我们对DR的发病机制的理解，并有可能导致新的预防和治疗策略的发展。

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.