Investigating the Genetic Basis of Glaucoma: Role of Polymorphisms in the IL-1 Gene Cluster
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 400
- 试验地点
- 1
研究概览
简要总结
Glaucoma, an optic neuropathy characterized by progressive visual field loss, is the leading cause of irreversible blindness worldwide. The condition has a substantial heritable basis, as illustrated by the numerous loci and genes identified to date, and the large proportion of patients having a family history.
Interleukin-1 (Il-1) is an important mediator of inflammation. There are 2 pro-inflammatory cytokines, Il-1 alpha and Il-1 beta. The genes encoding Il-1 are located within a 430kb region on chromosome 2q14.2. The role of Il-1 in glaucoma is a subject of recent interest. It has been shown that Il-1, produced endogenously by glaucomatous cells, inhibits the apoptotic response to oxidative stress, and Il-1 has also been reported to increase outflow facility by stimulating the _expression of matrix metalloproteinase enzymes, which in turn reduces extra cellular resistance. Recently, polymorphisms in Il-1 (particularly +3953T of the Il-1 β) were found to reduce the risk of primary open angle glaucoma. In this pilot study, we aim to investigate the role of Il-1 polymorphisms in both normal tension and high pressure glaucoma in our glaucoma patients. Both open and closed angle glaucoma will be studied. This is a pilot study of the role of immune system related polymorphisms and depending on the results, we may embark on a larger investigation of other immune genes in glaucoma
详细描述
Aims:
Primary objective: To investigate if polymorphisms in the Il-1 gene cluster are protective for glaucoma in Asian populations.
Secondary objective: To determine if there are differences in single nucleotide polymorphisms of the Il-1 gene cluster in normotensive glaucoma patients versus high-pressure glaucoma patients.
Background
The glaucomas are a group of heterogeneous optic neuropathies characterized by progressive loss of axons in the optic nerve. Based on WHO Global Data Bank on Blindness, glaucoma accounts for 5.1 million of the estimated 38 million blind in the world.1Glaucoma affects approximately 70 million people worldwide and is the leading cause of irreversible blindness in the world2. As the number of elderly in the world rapidly increases, glaucoma morbidity will rise, causing increased health care costs and economic burden. This has important public health implications for a condition in which visual loss, once established, cannot be reversed. The major risk factor in glaucoma is elevated intraocular pressure due to reduction in aqueous outflow.
研究设计
- 研究类型
- Observational
- 观察模型
- Case Control
- 时间视角
- Other
入排标准
- 年龄范围
- 40 Years 至 —（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •Standardized inclusion criteria for glaucoma will be used, which is the presence of glaucomatous optic neuropathy (defined as loss of neuroretinal rim with a cup:disc ratio of 0.7 or greater) with compatible visual field loss. PACG will be defined as the presence of at least 180 degrees of angle in which the trabecular meshwork is not visible on gonioscopy with the presence of glaucomatous optic neuropathy. POAG patients will have open angles on gonioscopy; POAG patients with a mean IOP without treatment that is consistently less than 21 mm Hg on diurnal testing will be classified as NTG.
- •There will be another 100 control patients with no clinical evidence of glaucoma recruited from the general clinics.
排除标准
- •Individuals with secondary angle closure and other ocular diseases will be excluded.