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Jac C. Charlesworth, Thomas D. Dyer, Jim M. Stankovich, John Blangero, David A. Mackey, Jamie E. Craig, Catherine M. Green, Simon J. Foote, Paul N. Baird, Michèle M. Sale; Linkage to 10q22 for Maximum Intraocular Pressure and 1p32 for Maximum Cup-to-Disc Ratio in an Extended Primary Open-Angle Glaucoma Pedigree. Invest. Ophthalmol. Vis. Sci. 2005;46(10):3723-3729. doi: https://doi.org/10.1167/iovs.05-0312.
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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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