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(Investigative Ophthalmology and Visual Science. 2005;46:3723-3729.)
© 2005 by The Association for Research in Vision and Ophthalmology, Inc.
DOI:  10.1167/iovs.05-0312
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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

Jac C. Charlesworth,1 Thomas D. Dyer,2 Jim M. Stankovich,1,3 John Blangero,2 David A. Mackey,4 Jamie E. Craig,5 Catherine M. Green,4 Simon J. Foote,3 Paul N. Baird,4 and Michèle M. Sale1,6,7

1From the Menzies Research Institute, University of Tasmania, Hobart, Australia; the 2Department of Genetics, Southwest Foundation for Biomedical Research, San Antonio, Texas; the 3Genetics and Bioinformatics Division, Walter and Eliza Hall Institute of Medical Research, Melbourne, Australia; the 4Center for Eye Research Australia, Royal Victorian Eye and Ear Hospital, University of Melbourne, Melbourne, Australia; the 5Department of Ophthalmology, Flinders University, Adelaide, Australia; and the 6Center for Human Genomics and the 7Department of Internal Medicine, Wake Forest University School of Medicine, Winston-Salem, North Carolina.

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.




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