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) - Hogewind, Barend F.
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.