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Originally published In Press as doi:10.1167/iovs.08-3065 on May 20, 2009
 (Investigative Ophthalmology and Visual Science. 2009;50:5275-5280.)
© 2009 by The Association for Research in Vision and Ophthalmology, Inc.
doi:10.1167/iovs.08-3065
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Major Genetic Effects in Glaucoma: Commingling Analysis of Optic Disc Parameters in an Older Australian Population

Leonieke M. E. van Koolwijk,1,2,3 Paul R. Healey,4 Roger A. Hitchings,1 Paul Mitchell,4 Pak C. Sham,5,6 Peter McGuffin,5 and Ananth C. Viswanathan1,2

From the 1Glaucoma Service, Moorfields Eye Hospital, London, United Kingdom; the 2Institute of Ophthalmology, University College, London, United Kingdom; the 3Glaucoma Service, The Rotterdam Eye Hospital, Rotterdam, The Netherlands; the 4Centre for Vision Research, University of Sydney, Sydney, Australia; the 5MRC Social Genetic and Developmental Psychiatry Research Centre, Institute of Psychiatry, King's College, London, United Kingdom; and the 6Department of Psychiatry, LKS Faculty of Medicine, University of Hong Kong, Hong Kong, China.

Corresponding author: Leonieke M. E. van Koolwijk, Glaucoma Service, The Rotterdam Eye Hospital, P.O. Box 70030, 3000 LM Rotterdam, The Netherlands; l.vankoolwijk{at}oogziekenhuis.nl.

Purpose. To test the hypothesis that there is a major genetic determinant of vertical disc diameter (VDD) and vertical cup-to-disc ratio (VCDR) in a large, population-based sample.

Methods. Data were collected from 3654 individuals, 49 years of age or older, participating in the Blue Mountains Eye Study. VDD and VCDR were determined from stereo optic disc photographs. Commingling analyses in SKUDRIVER/SKUMIX were performed in nonglaucomatous eyes to investigate whether the observed VDD and VCDR data were best described by a one-, two-, or three-distribution model.

Results. VDD data did not show evidence of commingling. After adjustment for the effects of age, VDD and intraocular pressure, the best model for VCDR consisted of a mixture of three distributions in Hardy-Weinberg equilibrium. The proportion of the variance in VCDR explained by this mixing component was 0.58.

Conclusions. Findings from this study are consistent with the presence of a major gene that accounts for 58% of the variance in VCDR. These results strongly support further efforts to identify the genetic variants responsible for this quantitative trait, which is a key constituent of the phenotype of primary open-angle glaucoma (POAG).






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