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Role of Polymorphisms in the IL-1 Gene Cluster

This study has been completed.
Information provided by:
Singapore National Eye Centre Identifier:
First received: June 29, 2006
Last updated: NA
Last verified: June 2006
History: No changes posted

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


Study Type: Observational
Study Design: Observational Model: Case Control
Primary Purpose: Screening
Time Perspective: Cross-Sectional
Time Perspective: Prospective
Official Title: Investigating the Genetic Basis of Glaucoma: Role of Polymorphisms in the IL-1 Gene Cluster

Resource links provided by NLM:

Further study details as provided by Singapore National Eye Centre:

Estimated Enrollment: 400
Study Start Date: July 2005
Estimated Study Completion Date: June 2006
  Show Detailed Description


Ages Eligible for Study:   40 Years and older   (Adult, Senior)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes

Inclusion Criteria:

  • 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.

Exclusion Criteria:

  • Individuals with secondary angle closure and other ocular diseases will be excluded.
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Please refer to this study by its identifier: NCT00346541

Singapore National Eye Centre
Singapore, Singapore, 168751
Sponsors and Collaborators
Singapore National Eye Centre
Study Director: Tin Aung, PHD, FRCS Singapore Eye Research Institute
  More Information Identifier: NCT00346541     History of Changes
Other Study ID Numbers: R423/18/2005
Study First Received: June 29, 2006
Last Updated: June 29, 2006

Keywords provided by Singapore National Eye Centre:
polymorphism, genetic

Additional relevant MeSH terms:
Ocular Hypertension
Eye Diseases processed this record on September 19, 2017