The role of BER and NER gene polymorphisms and their expression in glaucoma pathogenesis

Magdalena Gorczyca-Bojko; Dariusz Pytel; Dawid Lewko; Radoslaw Wojtczak; Marta Szaflik; Jerzy Szaflik; Jacek P. Szaflik; Ireneusz Majsterek

doi:10.5114/ko.2019.86946

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eISSN: 2719-3209
ISSN: 0023-2157

Klinika Oczna / Acta Ophthalmologica Polonica

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2/2019
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abstract:

Original paper

The role of BER and NER gene polymorphisms and their expression in glaucoma pathogenesis

Magdalena Gorczyca-Bojko

¹

,

Dariusz Pytel

²

,

Dawid Lewko

¹

,

Radoslaw Wojtczak

¹

,

Marta Szaflik

³

,

Jerzy Szaflik

⁴

,

Jacek P. Szaflik

³

,

Ireneusz Majsterek

¹

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

DOI: https://doi.org/10.5114/ko.2019.86946

Online publish date: 2019/09/23

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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:

The role of BER and NER gene polymorphisms and their expression in glaucoma pathogenesis

Magdalena Gorczyca-Bojko 1 , Dariusz Pytel 2 , Dawid Lewko 1 , Radoslaw Wojtczak 1 , Marta Szaflik 3 , Jerzy Szaflik 4 , Jacek P. Szaflik 3 , Ireneusz Majsterek 1

glaucoma, gene polymorphisms, BER, NER

Magdalena Gorczyca-Bojko

¹

,

Dariusz Pytel

²

,

Dawid Lewko

¹

,

Radoslaw Wojtczak

¹

,

Marta Szaflik

³

,

Jerzy Szaflik

⁴

,

Jacek P. Szaflik

³

,

Ireneusz Majsterek

¹