SNPs in Patients with and without Diabetic Macular Edema

患有和不患有糖尿病黄斑水肿的患者中的 SNP

• 批准号: 8556861
• 负责人: Frederick Ferris
• 金额: $ 9.98万
• 依托单位: NATIONAL EYE INSTITUTE
• 依托单位国家: 美国
• 资助国家: 美国
• 起止时间: 至
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/8556861
• 关键词: Affect; Blood Vessels; Blood specimen; Data; Development; Endothelin-1; Erythropoietin; Eye; Family; Fluorescein Angiography; Frequencies; Genes; Genetic; Genetic Polymorphism; Genotype; Growth; Image; Longitudinal Studies; Measurement; Medical; Ophthalmic examination and evaluation; Optical Coherence Tomography; Participant; Patients; Proteins; Protocols documentation; Recording of previous events; Serum; Single Nucleotide Polymorphism; Testing; Vascular Endothelial Growth Factors; Visual Acuity; diabetic; genetic association; glycation; macular edema; primary outcome; response; secondary outcome; social

This is a genetic association study evaluating whether single nucleotide polymorphisms (SNPs) in vascular endothelial growth facotr (VEGF),erythropoietin (EPO), endothelin-1 (EDN1) and activated glycation end products (AGE) genes affect the development and progression of DME. All participants will provide a blood sample, undergo an eye examination, optical coherence tomography (OCT) and potentially fluorescein angiography (FA). They will also discuss their medical, family and social history. Case participants with DME and control participants without DME will be allowed to continue receiving conventional eye treatment at the NEI under this protocol. The primary outcome variable is the genotype frequency of SNPs in the above specific genes of DME and control participants. Secondary outcomes are serum levels of VEGF, EPO, EDN1, AGE and ophthalmic measurements (visual acuity and imaging results such as FA and OCT results). Additionally, longitudinal data about response to treatment of diabetic macular edema will be gathered to attempt to discern a genetic predictor of response to particular treatment.

这是一项遗传关联研究，旨在评估血管内皮生长因子（VEGF）、促红细胞生成素（EPO）、内皮素-1（EDN1）和活化糖基化终产物（AGE）基因中的单核苷酸多态性（SNP）是否影响DME的发生和进展。所有参与者都将提供血样，接受眼部检查、光学相干断层扫描（OCT）和可能的荧光素血管造影（FA）。 他们还将讨论他们的医疗、家庭和社会史。根据本协议，患有 DME 的病例参与者和没有 DME 的对照参与者将被允许继续在 NEI 接受常规眼科治疗。 主要结果变量是 DME 和对照参与者上述特定基因中 SNP 的基因型频率。次要结果是 VEGF、EPO、EDN1、AGE 的血清水平和眼科测量（视力和成像结果，例如 FA 和 OCT 结果）。 此外，将收集有关糖尿病黄斑水肿治疗反应的纵向数据，以尝试辨别对特定治疗反应的遗传预测因子。