title: The relationship of TP53 and GRIN2B gene polymorphisms with risk of occurrence and progression of primary open-angle glaucoma in a Polish population.
abstract: BACKGROUND
  Glaucoma is characterized by optic neuropathy of the retinal ganglion cells (RGCs). Retinal ganglian cell death may be mediated by apoptosis. TP53 is involved in this process. It can also be found that excitotoxicity contributes to apoptosis by excess stimulation of glutamate receptors. The aim of this study was to evaluate the relationship of the TP53 (rs1042522) and GRIN2B (rs3764028) gene polymorphisms with risk of occurrence of primary open-angle glaucoma (POAG).
  
  
  METHODS
  The study population consisted of 186 patients and 188 healthy subjects. Genomic DNA was extracted from peripheral blood. Analysis of the gene polymorphisms was performed using PCR-RFLP.
  
  
  RESULTS
  Comparison of the distributions of genotypes and alleles of the rs1042522 and rs3764028 polymorphisms showed no statistically significant differences between POAG patients and controls (p > 0.05). There was a statistically significant association of the rs1042522 polymorphism with progression of POAG depending on the retinal nerve fiber layer (p = 0.019). However, no significant differences between rs3764028 polymorphism and clinical parameters of POAG were observed (p > 0.05).
  
  
  CONCLUSIONS
  The TP53 Arg72Pro and GRIN2B -421C/A gene polymorphisms were not associated with risk of occurrence of POAG in the Polish population. However, the Arg72Pro polymorphism of the TP53 gene may be related to progression of POAG.
authors.forename: A
authors.initials: A
authors.lastname: Nowak
authors.forename: K
authors.initials: K
authors.lastname: Przybylowska-Sygut
authors.forename: K
authors.initials: K
authors.lastname: Szymanek
authors.forename: J
authors.initials: J
authors.lastname: Szaflik
authors.forename: Jp
authors.initials: J
authors.lastname: Szaflik
authors.affiliation: Ireneusz Majsterek, Department of Clinical Chemistry and Biochemistry, Medical University of Lodz, Hallera 1 Square, 90-647 Lodz, Poland, e-mail: ireneusz.majsterek@umed.lodz.pl.
authors.forename: I
authors.initials: I
authors.lastname: Majsterek
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D016022:Case-Control Studies; D018450:Disease Progression; D005260:Female; D016158:Genes, p53; D020022:Genetic Predisposition to Disease; D005902:Glaucoma, Open-Angle / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D011044:Poland; D016194:Receptors, N-Methyl-D-Aspartate / Q000235:genetics*
chemical_list: C121001:NR2B NMDA receptor; D016194:Receptors, N-Methyl-D-Aspartate