title: Analysis of the expression and polymorphism of APOE, HSP, BDNF, and GRIN2B genes associated with the neurodegeneration process in the pathogenesis of primary open angle glaucoma.
abstract: 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 the APOE (rs449647), BDNF (rs2030324), GRIN2B (rs3764028), and HSP70-1 (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 of BDNF and APOE genes' 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 mean HSP70-1 mRNA 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 that BDNF and HSP70-1 expression level are associated with the progression of POAG based on rim area value. In conclusion, our results suggest that BDNF, APOE, and HSP70-1 genes might be associated with a risk of POAG occurrence in the Polish population.
authors.affiliation: Department of Clinical Chemistry and Biochemistry, Medical University of Lodz, Hallera 1 Square, 90-647 Lodz, Poland.
authors.forename: Alicja
authors.initials: A
authors.lastname: Nowak
authors.affiliation: Department of Clinical Chemistry and Biochemistry, Medical University of Lodz, Hallera 1 Square, 90-647 Lodz, Poland.
authors.forename: Ireneusz
authors.initials: I
authors.lastname: Majsterek
authors.affiliation: Department of Clinical Chemistry and Biochemistry, Medical University of Lodz, Hallera 1 Square, 90-647 Lodz, Poland.
authors.forename: Karolina
authors.initials: K
authors.lastname: Przybyłowska-Sygut
authors.affiliation: The Abramson Family Cancer Research Institute, Department of Cancer Biology, University of Pennsylvania, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA ; Department of Biochemistry and Molecular Biology, Hollings Cancer Center, Medical University of South Carolina, Charleston, SC 29425, USA.
authors.forename: Dariusz
authors.initials: D
authors.lastname: Pytel
authors.affiliation: Department of Ophthalmology, Medical University of Warsaw, Sierakowskiego 13 street, 03-709 Warsaw, Poland ; SPKSO Ophthalmic Hospital, Sierakowskiego 13 street, 03-709 Warsaw, Poland.
authors.forename: Katarzyna
authors.initials: K
authors.lastname: Szymanek
authors.affiliation: Department of Ophthalmology, Medical University of Warsaw, Sierakowskiego 13 street, 03-709 Warsaw, Poland ; SPKSO Ophthalmic Hospital, Sierakowskiego 13 street, 03-709 Warsaw, Poland.
authors.forename: Jerzy
authors.initials: J
authors.lastname: Szaflik
authors.affiliation: Department of Ophthalmology, Medical University of Warsaw, Sierakowskiego 13 street, 03-709 Warsaw, Poland ; SPKSO Ophthalmic Hospital, Sierakowskiego 13 street, 03-709 Warsaw, Poland.
authors.forename: Jacek P
authors.initials: JP
authors.lastname: Szaflik
mesh_terms: D000368:Aged; D000483:Alleles; D001057:Apolipoproteins E / Q000235:genetics*; D019208:Brain-Derived Neurotrophic Factor / Q000235:genetics*; D016022:Case-Control Studies; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D005902:Glaucoma, Open-Angle / Q000235:genetics*; D018840:HSP70 Heat-Shock Proteins / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D019636:Neurodegenerative Diseases / Q000150:complications* / Q000235:genetics*; D011044:Poland; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide; D016194:Receptors, N-Methyl-D-Aspartate / Q000235:genetics*; D017422:Sequence Analysis, DNA
chemical_list: D001057:Apolipoproteins E; D019208:Brain-Derived Neurotrophic Factor; D018840:HSP70 Heat-Shock Proteins; C483693:Hspa14 protein, human; C121001:NR2B NMDA receptor; D016194:Receptors, N-Methyl-D-Aspartate; C579455:BDNF protein, human