Analysis of single nucleotide polymorphisms in the SFRS3 and FKBP4 genes in corticosteroid-induced ocular hypertension

Background: The use of intravitreal triamcinolone acetonide (IVTA) can cause ocular hypertension. This steroid response appears to be heritable and alleles in the SFRS3 and FKBP4 genes have recently been suggested to play a role. The purpose of the present study was to perform an independent replication study to determine whether single nucleotide polymorphisms (SNPs) in SFRS3 and FKBP4 are involved in the steroid response. Materials and Methods: A retrospective case-control study of native Dutch patients was performed who were treated with 4.0mg 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 three SNPs: rs7759778 and rs1406945 in SFRS3, and rs2968909 in FKBP4. Results: A total of 102 patients was included: 58 steroid responders and 44 non-responders. No significant differences in demographic parameters or medical history were observed between the study groups. None of the SNPs were found to be significantly associated with the disease as no difference was revealed either in the genotype or allele frequencies between responders and non-responders. Conclusions: This study does not confirm a role for genetic variants in the SFRS3 and FKBP4 genes in the pathogenesis of corticosteroid-induced ocular hypertension. However, our limited sample size may have restricted the power of our study, and we therefore cannot exclude the involvement of these genetic variants in steroid response.