title: Confirmation of the adult-onset primary open angle glaucoma locus GLC1B at 2cen-q13 in an Australian family.
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.
authors.affiliation: Menzies Research Institute, Hobart, Tasmania, Australia.
authors.forename: Jac C
authors.initials: JC
authors.lastname: Charlesworth
authors.forename: James M
authors.initials: JM
authors.lastname: Stankovich
authors.forename: David A
authors.initials: DA
authors.lastname: Mackey
authors.forename: Jamie E
authors.initials: JE
authors.lastname: Craig
authors.forename: Michael
authors.initials: M
authors.lastname: Haybittel
authors.forename: Rodney N
authors.initials: RN
authors.lastname: Westmore
authors.forename: Michèle M
authors.initials: MM
authors.lastname: Sale
mesh_terms: D000328:Adult; D017668:Age of Onset; D000368:Aged; D018797:Cell Cycle Proteins; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics; D003598:Cytoskeletal Proteins / Q000235:genetics*; D004247:DNA / Q000235:genetics*; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D008040:Genetic Linkage; D020022:Genetic Predisposition to Disease; D005902:Glaucoma, Open-Angle / Q000453:epidemiology / Q000235:genetics*; D006023:Glycoproteins / Q000235:genetics*; D006239:Haplotypes; D006801:Humans; D008297:Male; D026901:Membrane Transport Proteins; D008875:Middle Aged; D010375:Pedigree; D016133:Polymerase Chain Reaction; D013648:Tasmania / Q000453:epidemiology; D035582:Transcription Factor TFIIIA / Q000235:genetics; D000099179:Myocilin
chemical_list: D018797:Cell Cycle Proteins; D003598:Cytoskeletal Proteins; D004247:DNA; D005136:Eye Proteins; D006023:Glycoproteins; D026901:Membrane Transport Proteins; D035582:Transcription Factor TFIIIA; D000099179:Myocilin; C409460:OPTN protein, human