Rola polimorfizmów 751Lys/Gln genu XPD oraz 939 Lys/Gln genu XPC w rozwoju jaskry pierwotnej otwartego kąta
The Role of the 751Lys/Gln XPD and 939 Lys/Gln XPC Genes Polymorphism in the Pathogenesis of Primary Open-angle Glaucoma
Magda Cuchra1, Katarzyna Szymanek2, Jacek P. Szaflik2,3, Jerzy Szaflik2,3, Ireneusz Majsterek1
1 Zakład Chemii i Biochemii Klinicznej Uniwersytetu Medycznego w Łodzi
Kierownik: prof. dr hab. n. med. Ireneusz Majsterek
2Samodzielny Publiczny Kliniczny Szpital Okulistyczny w Warszawie
3 Katedra i Klinika Okulistyki II Wydziału Lekarskiego Warszawskiego Uniwersytetu Medycznego
Kierownik: prof. dr hab. n. med. Jacek P. Szaflik
Summary: One of the main risk factors for developing primary open-angle glaucoma are oxidative DNA damage caused by reactive oxygen species. Base excision repair is the crucial pathway responsible for removing oxidative DNA damage. However, recent reports suggest that nucleotide excision repair may also play important role in eliminating oxidative DNA lesions. In this study, we focused on two main proteins – XPD and XPC. It is suggested that presence of the 751Lys/Gln XPD and 939Lys/Gln XPC genes polymorphism may lead to decrease DNA repair capacity.
The aim of this study was to evaluate the role of the 751Lys/Gln XPD and 939 Lys/Gln XPC genes polymorphisms in the pathogenesis of primary open-angle glaucoma. 100 patients with primary open-angle glaucoma and 100 healthy controls were enrolled in this study. The analysis of the studied genes polymorphic variants were performed by PCR-RFLP. Additionally, it was analyzed the role of studied genes in progression of primary open angle glaucoma in relation to clinical parameters.
In presented research, we indicated the role of the 751 Lys/Gln XPD gene polymorphism in the increased risk of primary open angle glaucoma development (OR 1.93; 95% CI 1.09–3.90; p = 0.02). Moreover, we suggested the role of XPC gene polymorphism in the decrease risk of primary open angle glaucoma development (OR 0.13; 95% CI 0.024–0.91; p = 0.04) for 939 Lys/Gln genotype and (OR 0.31; 95% CI 0.09–0.99; p = 0.04) for 939Gln/Gln genotype. Therefore, we postulate the role of nucleotide excision repair in primary open-angle glaucoma development.
Słowa kluczowe: jaskra pierwotna otwartego kąta, uszkodzenia DNA, polimorfizm genetyczny, naprawa przez wycinanie nukleotydów.
Keywords: primary open angle glaucoma, DNA damage, genetic polymorphism, nucleotide excision repair.