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Confirmation of the Adult-Onset Primary Open Angle Glaucoma Locus GLC1B at 2cen-q13 in an Australian family

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Charlesworth, JC and Stankovich, J and Mackey, DA and Craig, JE and Haybittel, M and Westmore, RN and Sale, MM (2006) Confirmation of the Adult-Onset Primary Open Angle Glaucoma Locus GLC1B at 2cen-q13 in an Australian family. Ophthalmologica, 220 (1). pp. 23-30. ISSN 0030-3755

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Abstract

Primary open-angle glaucoma (POAG) is genetically heterogeneous, with 6 named POAG loci GLC1A-F mapped and genes myocilin (MYOC) and optineurin (OPTN) identified at 2 of the loci. Using penetrance-model-free methods, we screened the POAG loci GLC1A-F in an extended Australian pedigree, using 3-5 markers within each locus. p values of less than 0.05 were obtained empirically using SimWalk2 and exactly using Genehunter for 2 markers within the GLC1B region on chromosome 2. Fine mapping of this region produced pvalues of 0.01 or less at 5 markers flanked by D2S1897 and D2S2269. The 9 cM haplotype of interest overlaps the original GLC1B region. These results provide supportive evidence for the GLC1B locus on chromosome 2cen-q13 and verify the existence of POAG susceptibility gene in this region, increasing the likelihood of gene identification.

Item Type: Article
Keywords: Glaucoma, Linkage, Genetic susceptibility, Nonparametric statistics, Model-free analysis
Journal or Publication Title: Ophthalmologica
Page Range: pp. 23-30
ISSN: 0030-3755
Identification Number - DOI: 10.1159/000089271
Date Deposited: 26 Aug 2008 04:44
Last Modified: 18 Nov 2014 03:48
URI: http://eprints.utas.edu.au/id/eprint/7326
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