Analysis of the Expression and Polymorphism ofAPOE, HSP, BDNF,andGRIN2BGenes Associated with the Neurodegeneration Process in the Pathogenesis of Primary Open Angle Glaucoma
Glaucoma is characterized by optic neuropathy of the RGC or retinal nerve fiber. The aim of this study was to evaluate a relationship between the neurodegenerative genes’ polymorphisms of theAPOE(rs449647),BDNF(rs2030324),GRIN2B(rs3764028), andHSP70-1(rs1043618) and the occurrence risk of POAG and to investigate its effect on allele-specific gene expression. Genomic DNA was extracted from peripheral blood. Analysis of the genes’ polymorphisms was performed using PCR-RFLP. The level of mRNA expression was determined by QRT-PCR. We showed a statistically significant association ofBDNFandAPOEgenes’ polymorphisms with a risk of POAG occurrence. There was a statistically significant association of the rs2030324 polymorphism with progression of POAG based on cup disc ratio value and rs1043618 polymorphism based on nerve fiber index and rim area. Furthermore, we found that meanHSP70-1mRNA expression was significantly lower in the case of individuals with the G/G genotype than in the case of minor allele carriers, that is, G/C and C/C. We also found thatBDNFandHSP70-1expression level are associated with the progression of POAG based on rim area value. In conclusion, our results suggest thatBDNF,APOE, andHSP70-1genes might be associated with a risk of POAG occurrence in the Polish population.