Little evidence for association of the glaucoma gene MYOC with open-angle glaucoma

• Published in: British journal of ophthalmology Vol. 94; no. 5; pp. 639 - 642
• Main Authors: Sohn, Seongsoo, Hur, Wonhee, Choi, Young Ran, Chung, Yun Shin, Ki, Chang-Seok, Kee, Changwon
• Format: Journal Article
• Language: English
• Published: BMA House, Tavistock Square, London, WC1H 9JR BMJ Publishing Group Ltd 01.05.2010; BMJ Publishing Group; BMJ Publishing Group LTD; BMJ Group
• Subjects: Biological and medical sciences; Cells, Cultured; Cytoskeletal Proteins - genetics; Cytoskeletal Proteins - metabolism; Deoxyribonucleic acid; DNA; Experimental and laboratory; Eye Proteins - genetics; Eye Proteins - metabolism; Gene expression; Gene Expression Regulation - drug effects; Gene Frequency; Genetic Predisposition to Disease; Glaucoma; Glaucoma and intraocular pressure; Glaucoma, Open-Angle - genetics; Glucocorticoids - pharmacology; Glycoproteins - genetics; Glycoproteins - metabolism; Humans; Hydrostatic Pressure; intraocular pressure; Laboratory Science; linkage disequilibrium; Medical sciences; Miscellaneous; Mutation; myocilin; open-angle glaucoma; Ophthalmology; Pathogenesis; Polymorphism, Single Nucleotide; steroid eye drop; Steroids; Studies; Trabecular Meshwork - cytology; Trabecular Meshwork - drug effects; Trabecular Meshwork - metabolism; New York; Glaucoma; Protozoa; Eye disease; Association; Open angle glaucoma; Gene; Ciliata; Ophthalmology
• ISSN: 0007-1161; 1468-2079
• DOI: 10.1136/bjo.2009.158261

Background/aimTo determine if overexpression of the glaucoma gene MYOC is involved in the development of open-angle glaucoma (OAG) and if its promoter variants are associated with glaucoma in the Korean population.MethodsHuman trabecular meshwork cells were cultured in the presence of ophthalmic steroids such as fluorometholone, fluorometholone acetate, dexamethasone, prednisolone acetate and rimexolone. The cells were cultured at a hydrostatic pressure of 32 mm Hg above atmospheric pressure and induction of MYOC was evaluated by northern blot analysis. Genomic DNA was extracted from blood samples obtained from 74 normal controls and 168 unrelated Korean patients with OAG, including primary OAG, normal tension glaucoma and steroid-induced glaucoma. A 461 base pair (bp) DNA fragment of the MYOC promoter region was amplified using PCR and its genotype was analysed by directly sequencing the product.ResultsThe potencies of steroid eye drops in MYOC induction in vitro was the same regardless of their potential for elevating intraocular pressure in vivo. Hydrostatic pressure had no effect on MYOC induction. A dinucleotide repeat polymorphism and three single nucleotide polymorphisms were identified, but no obvious differences in the genotype distribution and allele frequency of the variants between the control group and any type of OAG were observed.ConclusionOur data suggest that MYOC overexpression is not a cause or an effect of intraocular pressure elevation and that MYOC itself is not associated with OAG.