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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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posted on 2023-05-16, 18:23 authored by Jac CharlesworthJac Charlesworth, Jim Stankovich, David MackeyDavid Mackey, Jamie CraigJamie Craig, Haybittel, M, Westmore, RN, Sale, MM
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.

History

Publication title

Ophthalmologica

Volume

220

Pagination

23-30

ISSN

0030-3755

Department/School

Menzies Institute for Medical Research

Publisher

KARGER

Place of publication

SWITZERLAND

Repository Status

  • Restricted

Socio-economic Objectives

Clinical health not elsewhere classified

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