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Linkage to 10q22 for maximum intraocular pressure and 1p32 for maximum cup-to-disc ratio in an extended primary open-angle glaucoma pedigree

Citation

Charlesworth, JC and Dyer, TD and Stankovich, J and Blangero, J and Mackey, DA and Craig, JE and Green, CM and Foote, SJ and Baird, PN and Sale, MM, Linkage to 10q22 for maximum intraocular pressure and 1p32 for maximum cup-to-disc ratio in an extended primary open-angle glaucoma pedigree, Investigative Ophthalmology & Visual Science, 46, (10) pp. 3723-3729. ISSN 0146-0404 (2005) [Refereed Article]

DOI: doi:10.1167/iovs.05-0312

Abstract

PURPOSE. The purpose of this study was to identify genetic contributions to primary open-angle glaucoma (POAG) through investigations of two quantitative components of the POAG phenotype. METHODS. Genome-wide multipoint variance- components linkage analyses of maximum recorded intraocular pressure (IOP) and maximum vertical cup-to-disc ratio were conducted on data from a single, large Australian POAG pedigree that has been found to segregate the myocilin Q368X mutation in some individuals. RESULTS. Multipoint linkage analysis of maximum recorded IOP produced a peak LOD score of 3.3 (P = 0.00015) near marker D10S537 on 10q22, whereas the maximum cup-to-disc ratio produced a peak LOD score of 2.3 (P = 0.00056) near markers D1S197 to D1S220 on 1p32. Inclusion of the myocilin Q368X mutation as a covariate provided evidence of an interaction between this mutation and the IOP and cup-to-disc ratio loci. CONCLUSIONS. Significant linkage has been identified for maximum IOP and suggestive linkage for vertical cup-to-disc ratio. Identification of genes contributing to the variance of these traits will enhance understanding of the pathophysiology of POAG as a whole. Copyright © Association for Research in Vision and Ophthalmology.

Item Details

Item Type:Refereed Article
Research Division:Medical and Health Sciences
Research Group:Ophthalmology and Optometry
Research Field:Ophthalmology
Objective Division:Health
Objective Group:Clinical Health (Organs, Diseases and Abnormal Conditions)
Objective Field:Hearing, Vision, Speech and Their Disorders
Author:Charlesworth, JC (Dr Jac Charlesworth)
Author:Stankovich, J (Dr Jim Stankovich)
Author:Mackey, DA (Professor David Mackey)
Author:Foote, SJ (Professor Simon Foote)
Author:Sale, MM (Dr Michele Sale)
ID Code:37128
Year Published:2005
Web of Science® Times Cited:35
Deposited By:Medicine (Discipline)
Deposited On:2005-08-01
Last Modified:2006-06-30
Downloads:0

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