title: The role of the 148 Asp/Glu polymorphism of the APE1 gene in the development and progression of primary open angle glaucoma development in the Polish population.
abstract: Glaucoma is an ocular disorder that is characterized by progressive degeneration of the optic nerve and loss of visual field (VF). Recent data have suggested that the level of oxidative DNA damage in human trabecular meshwork is significantly increased in glaucomatous patients as compared to controls. It was also noted that progressive loss of visual field may by connected with elevated levels of oxidative DNA lesions. This hypothesis may suggest the role of an inefficient base excision repair pathway in primary open angle glaucoma (POAG) pathogenesis. The aim of the study was to evaluate the association of the 148 Asp/Glu APE1 gene polymorphism with the risk of POAG development. One hundred fifty patients with POAG and 190 controls were enrolled in our study. Gene polymorphisms were analyzed by PCR-CTPP. We did not observe a statistically significant difference between the frequencies of alleles and genotypes of the 148 Asp/Glu APE1 gene polymorphism in POAG patients and controls. However, the presented study indicated that 148 Asp/Glu of the APE1 gene was associated with decreased risk of progression of POAG with reference to the parameter VF. We suggest that the 148 Asp/Glu APE1 gene polymorphism may decrease the risk of POAG progression.
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: M
authors.initials: M
authors.lastname: Cuchra
authors.forename: J P
authors.initials: JP
authors.lastname: Szaflik
authors.forename: K
authors.initials: K
authors.lastname: Przybylowska-Sygut
authors.forename: M
authors.initials: M
authors.lastname: Gacek
authors.forename: A
authors.initials: A
authors.lastname: Kaminska
authors.forename: J
authors.initials: J
authors.lastname: Szaflik
authors.forename: I
authors.initials: I
authors.lastname: Majsterek
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D004247:DNA / Q000235:genetics*; D004249:DNA Damage; D004260:DNA Repair; D043603:DNA-(Apurinic or Apyrimidinic Site) Lyase / Q000235:genetics* / Q000378:metabolism; D004151:Dipeptides / Q000235:genetics*; D018450:Disease Progression; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D005902:Glaucoma, Open-Angle / Q000453:epidemiology / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D011044:Poland / Q000453:epidemiology; D011110:Polymorphism, Genetic
chemical_list: D004151:Dipeptides; C038676:aspartylglutamate; D004247:DNA; C085108:APEX1 protein, human; D043603:DNA-(Apurinic or Apyrimidinic Site) Lyase