Confirmation of the adult-onset primary open angle glaucoma locus GLC1B at 2cen-q13 in an Australian family

J.C. Charlesworth, J.M. Stankovich, David Mackey, J.E. Craig, M. Haybittel, R.N. Westmore, M.M. Sale

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9 Citations (Scopus)

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 p values 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. Copyright (c) 2006 S. Karger AG, Basel.
Original languageEnglish
Pages (from-to)23-30
JournalOphthalmologica
Volume220
Issue number1
DOIs
Publication statusPublished - 2005

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