Analyses of Sequence Variants in the MYOC Gene and of Single Nucleotide Polymorphisms in the NR3C1 and FKBP5 Genes in Corticosteroid-Induced Ocular Hypertension. (9th December 2015)

• Record Type: Journal Article
• Authors: Hogewind, Barend F.; Micheal, Shazia; Schoenmaker-Koller, Frederieke E.; Hoyng, Carel B.; den Hollander, Anneke I.
• Is Part Of: Ophthalmic genetics. Volume 36:Number 4(2015:Dec.)
• Page Start: 299
• Page End: 302
• Publication Date: 2015-12-09
• Subjects: FKBP5 -- MYOC -- NR3C1 -- ocular hypertension/chemically induced -- triamcinolone acetonide; Eye -- Diseases -- Genetic aspects -- Periodicals; Eye Diseases -- genetics -- Periodicals; Eye Diseases -- in infancy & childhood -- Periodicals; 617.7
• DOI: 10.3109/13816810.2013.879598
• Languages: English
• ISSNs: 1381-6810

Abstract

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. Materials and 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.