Brain-derived neurotrophic factor (BDNF) gene polymorphism in a cohort of Egyptian primary open-angle glaucoma (POAG) patients

Abstract

Abstract Background Glaucoma is the second leading cause of blindness in the world with primary open-angle glaucoma (POAG) that is the most prevalent type. Brain-derived neurotrophic factor (BDNF) is a member of the neurotrophin family synthesized by retinal ganglion cells (RGCs). Disturbance of axonal transport of neurotrophins with optic nerve dystrophy results in deprivation of BDNF support to the RGCs inducing glaucomatous retinal cell death. Materials and methods This case-control study was conducted on 50 POAG patients (mean age 55 ± 10) and 50 healthy control subjects (mean age 40 ± 11). Both groups underwent full ophthalmological examination. Genomic DNA was extracted followed by BDNF rs2030324 genotyping by real time PCR. Results Correlation coefficient analysis showed significant positive correlation between age and right and left cup to disc ratio (r = 0.448, p = 0.001; r = 0.283, p = 0.004 respectively) and significant negative correlation between intraocular pressure and right and left VA (r = − 0.212, p = 0.034; r = − 0.258, p = 0.009 respectively). No significant difference between the 2 groups was found as regards genotype or alleles frequency distribution (p = 0.722). Conclusion This study did not succeed to illustrate the role of BDNF gene polymorphism (SNP rs2030324) as a risk factor for POAG occurrence. The mechanism of glaucoma development according to the BDNF polymorphism remains unclear.

Keywords

• Open angle glaucoma
• Brain derived neurotrophic factor
• Gene polymorphism