Cardiff University | Prifysgol Caerdydd ORCA
Online Research @ Cardiff 
WelshClear Cookie - decide language by browser settings

A major marker for normal tension glaucoma: Association with polymorphisms in the OPA1 gene

Aung, T., Ocaka, L., Ebenezer, N. D., Morris, A. G., Francis, P. J., Thiselton, D. L., Alexander, C., Votruba, Marcela, Brice, G., Child, A. H., Hitchings, R. A., Lehmann, O. J. and Bhattacharya, S. S. 2002. A major marker for normal tension glaucoma: Association with polymorphisms in the OPA1 gene. Human Genetics 110 (1) , pp. 52-56. 10.1007/s00439-001-0645-7

Full text not available from this repository.

Abstract

Normal tension glaucoma (NTG) is a major form of glaucoma, associated with intraocular pressures that are within the statistically normal range of the population. OPA1, the gene responsible for autosomal dominant optic atrophy represents an excellent candidate gene for NTG, as the clinical phenotypes are similar and OPA1 is expressed in the retina and optic nerve. Eighty-three well-characterized NTG patients were screened for mutations in OPA1 by heteroduplex analysis and bi-directional sequencing. Sequences found to be altered in NTG subjects were examined for variations in 100 population controls. A second cohort of 80 NTG patients and 86 population controls was subsequently screened to determine whether the initial findings could be replicated. A single nucleotide polymorphism (SNP) on intervening sequence (IVS) 8 (IVS8 + 4 C/T) was found to be strongly associated with the occurrence of NTG in both cohorts (L2=7.97, P=0.005 in the first cohort, L2=9.93, P=0.002 in the second cohort; odds ratio 3.1 (95% CI: 1.8-5.6). A second SNP (IVS8 + 32 T/C) appeared to be associated with disease in the first cohort (L2=4.71, P=0.030), but this finding could not be replicated in the second cohort. In the combined cohort, the compound at-risk genotype IVS8 + 4 C/T, + 32 T/C was strongly associated with the occurrence of NTG (L2=22.04, P=0.00001 after correcting for testing four genotypes). These results indicate that polymorphisms in the OPA1 gene are associated with NTG and may be a marker for the disease.

Item Type: Article
Date Type: Publication
Status: Published
Schools: Optometry and Vision Sciences
Neuroscience and Mental Health Research Institute (NMHRI)
Subjects: R Medicine > RE Ophthalmology
Publisher: Springer
ISSN: 0340-6717
Last Modified: 04 Jun 2017 04:13
URI: http://orca.cf.ac.uk/id/eprint/34897

Citation Data

Cited 113 times in Google Scholar. View in Google Scholar

Cited 96 times in Scopus. View in Scopus. Powered By Scopus® Data

Actions (repository staff only)

Edit Item Edit Item