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Abstract #55577 Published in IGR 15-4
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
Cuchra M; Szaflik JP; Przybylowska-Sygut K; Gacek M; Kaminska A; Szaflik J; Majsterek IPolish journal of pathology : official journal of the Polish Society of Pathologists 2013; 64: 296-302
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.
Classification:
3.4.2 Gene studies (Part of: 3 Laboratory methods > 3.4 Molecular genetics)