Ophthalmic genetics · 2015
Analyses of Sequence Variants in the MYOC Gene and of Single Nucleotide Polymorphisms in the NR3C1 and FKBP5 Genes in Corticosteroid-Induced Ocular Hypertension.
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Hogewind Barend F, Micheal Shazia, Schoenmaker-Koller Frederieke E, Hoyng Carel B, den Hollander Anneke I
Аннотация
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.
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.
Предметные рубрики MeSH
Case-Control StudiesCytoskeletal ProteinsEye ProteinsGene FrequencyGenetic VariationGenotyping TechniquesGlucocorticoidsGlycoproteinsHumansIntraocular PressureIntravitreal InjectionsMacular EdemaOcular HypertensionOpen Reading FramesPolymerase Chain ReactionPolymorphism, Single NucleotideReceptors, GlucocorticoidRetrospective StudiesTacrolimus Binding ProteinsTriamcinolone AcetonideMyocilinTacrolimus Binding Protein 5