Abstract
The role of BER and NER gene polymorphisms and their expression in glaucoma pathogenesis
- Department of Clinical Chemistry and Biochemistry, Medical University in Lodz, Lodz, Poland Head: professor Ireneusz Majsterek, MD, PhD
- Department of Biochemistry and Molecular Biology, Hollings Cancer Center, Medical University of South Carolina, Charleston, United States Head: J. Alan Diehl, PhD
- Department of Ophthalmology, SPKSO Ophthalmic Hospital, Medical University of Warsaw, Warsaw, Poland Head: professor Jacek P. Szaflik, MD, PhD
- Laser Eye Microsurgery Center, Warsaw, Poland Head: professor Jerzy Szaflik, MD, PhD
Introduction
Glaucoma is the second most common cause of blindness globally. Glaucoma development has been attributed to impaired base excision repair (BER) and, possibly, altered nucleotide excision repair (NER).
Aim
The aim of this study was to examine the influence of the NER and BER DNA repair pathways on glaucoma development. The genotypes of XPD, XPC, XRCC1 and ADPRT SNPs and their mRNA expression level were determined.
Material and methods
The study included 200 patients diagnosed with POAG and 200 healthy age-matched controls. PCR-RFLP was employed for genotyping the study and control groups. Real-time PCR was used to evaluate the level of mRNA expression in the studied genes.
Results
A relationship was found between XRCC1 and XPD gene polymorphisms and glaucoma pathogenesis. However, no significant changes were found between patients and controls with regard to the level of mRNA expression.
Conclusion
Both BER and NER may play a part in glaucoma pathogenesis.
Keywords
glaucoma, gene polymorphisms, BER, NER
Integrated with
