title: Allelic variants in the MYOC/TIGR gene in patients with primary open-angle, exfoliative glaucoma and unaffected controls.
abstract: One of the leading causes of blindness in the world is glaucoma. The most common form is primary open-angle glaucoma (POAG). The only gene identified so far as being associated with POAG is the MYOC gene; 2-4% of the patients have been reported to carry mutations in this gene. Exfoliative glaucoma is a secondary glaucoma, in which one of the symptoms is exfoliations on the lens capsule and anterior segment of the eye. No gene has been identified as being associated with this variant. The aim of the present study was to analyze Swedish patient material for allelic variants and mutations in the coding region of the MYOC gene. Two hundred patients with POAG and 200 with exfoliative glaucoma were analyzed using enzymatic cleavage assay and denaturing high-performance liquid chromatography (dHPLC). An age-matched control group (n = 200), in whom glaucoma had been excluded, was also analyzed using dHPLC. Eight allele variants were identified, two of which were determined to be disease-causing mutations. These two disease-causing mutations were only found in POAG patients, indicating a prevalence of 1% in this patient group. This frequency is lower than that reported in other studies of other populations. No disease-causing mutations were found in the exfoliative glaucoma patients, indicating a fundamentally different genetic basis for that glaucoma variant.
authors.affiliation: Department of Genetics and Pathology, Unit of Clinical Genetics, Rudbeck Laboratory, Uppsala University, SE-751 85 Uppsala, Sweden.
authors.forename: Mattias
authors.initials: M
authors.lastname: Jansson
authors.forename: Towa
authors.initials: T
authors.lastname: Marknell
authors.forename: Lidija
authors.initials: L
authors.lastname: Tomic
authors.forename: Lill-Inger
authors.initials: LI
authors.lastname: Larsson
authors.forename: Claes
authors.initials: C
authors.lastname: Wadelius
mesh_terms: D000368:Aged; D000483:Alleles; D016022:Case-Control Studies; D002851:Chromatography, High Pressure Liquid; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics; D003598:Cytoskeletal Proteins; D004252:DNA Mutational Analysis; D017889:Exfoliation Syndrome / Q000235:genetics*; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D014644:Genetic Variation / Q000235:genetics*; D005902:Glaucoma, Open-Angle / Q000235:genetics* / Q000473:pathology; D006023:Glycoproteins / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D016133:Polymerase Chain Reaction; D012016:Reference Values; D013548:Sweden; D014129:Trabecular Meshwork; D000099179:Myocilin
chemical_list: D003598:Cytoskeletal Proteins; D005136:Eye Proteins; D006023:Glycoproteins; D000099179:Myocilin