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Association of open-angle glaucoma loci with incident glaucoma in the Blue Mountains Eye Study


Burdon, KP and Mitchell, P and Lee, A and Healey, PR and White, AJR and Rochtchina, E and Thomas, PBM and Wang, JJ and Craig, JE, Association of open-angle glaucoma loci with incident glaucoma in the Blue Mountains Eye Study, American Journal of Ophthalmology, 159, (1) pp. 31-36. ISSN 0002-9394 (2015) [Refereed Article]


Copyright Statement

Copyright 2015 The Authors-this article is licensed under the terms of the Creative Commons Attribution 3.0 Unported (CC BY 3.0) License

DOI: doi:10.1016/j.ajo.2014.09.020


Purpose: To determine if open-angle glaucoma (OAG)-associated single nucleotide polymorphisms (SNPs) are associated with incident glaucoma and if such genetic information is useful in OAG risk prediction.

Design: Case-control from within a population-based longitudinal study.

Methods: Study population: Individuals aged over 49 years of age living in the Blue Mountains region west of Sydney and enrolled in the Blue Mountains Eye Study. Observation: Cases for this sub-study (n = 67) developed incident OAG between baseline and 10-year visits, in either eye, while controls (n = 1919) had no evidence for OAG at any visit. All participants had an ocular examination and DNA genotyped for reported OAG risk SNPs. Main outcome measure: Incident OAG.

Results: Two loci also known to be associated with cup-to-disc ratio as well as OAG (9p21 near CDKN2B-AS1 and SIX1/SIX6) were both significantly associated with incident OAG in the Blue Mountains Eye Study cohort (P = .006 and P = .004, respectively). The TMCO1 locus was nominally associated (P = .012), while the CAV1/CAV2 and 8q22 loci were not associated. Multivariate logistic regression and neural network analysis both indicated that the genetic risk factors contributed positively to the predictive models incorporating traditional risk factors.

Conclusions: This study shows that previously reported genetic variations related to OAG and cup-to-disc ratio are associated with the onset of OAG and thus may become useful in risk prediction algorithms designed to target early treatment to those most at risk of developing glaucoma.

Item Details

Item Type:Refereed Article
Research Division:Biomedical and Clinical Sciences
Research Group:Ophthalmology and optometry
Research Field:Ophthalmology
Objective Division:Health
Objective Group:Clinical health
Objective Field:Clinical health not elsewhere classified
UTAS Author:Burdon, KP (Professor Kathryn Burdon)
ID Code:99699
Year Published:2015
Web of Science® Times Cited:25
Deposited By:Menzies Institute for Medical Research
Deposited On:2015-04-02
Last Modified:2017-11-06
Downloads:306 View Download Statistics

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