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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, Stankovich, J, Mackey, DA, Craig, JE, Haybittel, M, 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, vol. 220, no. 1 , pp. 23-30 , doi: 10.1159/000089271.

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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
Authors/Creators:Charlesworth, JC and Stankovich, J and Mackey, DA and Craig, JE and Haybittel, M and Westmore, RN and Sale, MM
Keywords: Glaucoma, Linkage, Genetic susceptibility, Nonparametric statistics, Model-free analysis
Journal or Publication Title: Ophthalmologica
ISSN: 0030-3755
DOI / ID Number: 10.1159/000089271
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