title: Analyses of Sequence Variants in the MYOC Gene and of Single Nucleotide Polymorphisms in the NR3C1 and FKBP5 Genes in Corticosteroid-Induced Ocular Hypertension.
abstract: BACKGROUND
  To perform an independent replication study to determine whether genetic variants in MYOC, NR3C1 and FKBP5 are involved in steroid-induced ocular hypertension.
  
  
  METHODS
  A retrospective case-control study was peformed on native Dutch patients who were treated with 4.0 mg intravitreal triamcinolone acetonide (IVTA). The patients were divided into an intraocular hypertension group (intraocular pressure >21 mmHg within a year after IVTA) and a non-intraocular hypertension group. The cohort was genotyped for 31 single-nucleotide polymorphisms (SNPs): 21 in NR3C1 and 10 in FKBP5. In addition, the open reading frame of MYOC was sequenced.
  
  
  RESULTS
  A total of 102 patients were included in this study: 58 steroid responders and 44 non-responders. No significant associations were found for the studied SNPs in NR3C1 and FKBP5. Heterozygous amino acid variants were detected in the MYOC gene in two patients of the non-intraocular hypertension group.
  
  
  CONCLUSIONS
  This study does not confirm a role for genetic variants in the MYOC, NR3C1 and FKBP5 genes in the pathogenesis of corticosteroid-induced ocular hypertension.
authors.affiliation: a Department of Ophthalmology , Medical Centre Haaglanden , Den Haag .|b Department of Ophthalmology , and.
authors.forename: Barend F
authors.initials: BF
authors.lastname: Hogewind
authors.affiliation: b Department of Ophthalmology , and.
authors.forename: Shazia
authors.initials: S
authors.lastname: Micheal
authors.affiliation: b Department of Ophthalmology , and.
authors.forename: Frederieke E
authors.initials: FE
authors.lastname: Schoenmaker-Koller
authors.affiliation: b Department of Ophthalmology , and.
authors.forename: Carel B
authors.initials: CB
authors.lastname: Hoyng
authors.affiliation: b Department of Ophthalmology , and.|c Department of Human Genetics , Radboud University Nijmegen Medical Centre , Nijmegen , the Netherlands.
authors.forename: Anneke I
authors.initials: AI
authors.lastname: den Hollander
mesh_terms: D016022:Case-Control Studies; D003598:Cytoskeletal Proteins / Q000235:genetics*; D005136:Eye Proteins / Q000235:genetics*; D005787:Gene Frequency; D014644:Genetic Variation; D060005:Genotyping Techniques; D005938:Glucocorticoids / Q000009:adverse effects*; D006023:Glycoproteins / Q000235:genetics*; D006801:Humans; D007429:Intraocular Pressure / Q000187:drug effects; D058449:Intravitreal Injections; D008269:Macular Edema / Q000188:drug therapy; D009798:Ocular Hypertension / Q000139:chemically induced / Q000175:diagnosis / Q000235:genetics*; D016366:Open Reading Frames / Q000235:genetics; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D011965:Receptors, Glucocorticoid / Q000235:genetics*; D012189:Retrospective Studies; D022021:Tacrolimus Binding Proteins / Q000235:genetics*; D014222:Triamcinolone Acetonide / Q000009:adverse effects; D000099179:Myocilin; D000099159:Tacrolimus Binding Protein 5
chemical_list: D003598:Cytoskeletal Proteins; D005136:Eye Proteins; D005938:Glucocorticoids; D006023:Glycoproteins; D011965:Receptors, Glucocorticoid; D022021:Tacrolimus Binding Proteins; D014222:Triamcinolone Acetonide; D000099179:Myocilin; D000099159:Tacrolimus Binding Protein 5; C497713:NR3C1 protein, human
keywords: FKBP5; MYOC; NR3C1; ocular hypertension/chemically induced; triamcinolone acetonide