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Little evidence for association of the glaucoma gene MYOC with open-angle glaucoma
  1. Seongsoo Sohn1,
  2. Wonhee Hur2,3,
  3. Young Ran Choi2,
  4. Yun Shin Chung4,
  5. Chang-Seok Ki5,
  6. Changwon Kee1
  1. 1Department of Ophthalmology, Samsung Biomedical Research Institute, Sungkyunkwan University School of Medicine, Seoul, South Korea
  2. 2Center for Clinical Research, Samsung Biomedical Research Institute, Sungkyunkwan University School of Medicine, Seoul, South Korea
  3. 3Present address: Department of Internal Medicine & WHO Collaborating Center of Viral Hepatitis, The Catholic University of Korea, Seoul, 137-701, South Korea
  4. 4Transplantation Center, Samsung Biomedical Research Institute, Sungkyunkwan University School of Medicine, Seoul, South Korea
  5. 5Laboratory Medicine & Cytogenetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South Korea
  1. Correspondence to Dr Changwon Kee, Department of Ophthalmology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul 135-710, South Korea; ckee{at}skku.edu

Abstract

Background/aim To 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.

Methods Human 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.

Results The 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.

Conclusion Our 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.

  • Experimental and laboratory, intraocular pressure
  • linkage disequilibrium
  • myocilin
  • open-angle glaucoma
  • steroid eye drop

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Footnotes

  • Funding This work was supported by the Korea Research Foundation Grant funded by the Korean Government (MOEHRD, Basic Research Promotion Fund) (KRF-2004-041-E00216), by a grant from the Korea Science and Engineering Foundation Science Research Center (SRC) project endowed to the Molecular Therapeutic Research Center (MTRC) and by Samsung Biomedical Research institute grant #SBRI C-A7-402-1.

  • Competing interests None.

  • Patient consent Obtained.

  • Provenance and peer review Not commissioned; externally peer reviewed.