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Wydanie 3/2016
str. 56 - 61

Rola nowych wariantów polimorficznych -77T/C genu XRCC1 oraz G1972A genu ADPRT w patogenezie jaskry pierwotnej otwartego kąta

The Role of the Novel -77 T/C of XRCC1 and G1972A of ADPRT Genes Polymorphisms in the Risk of Primary Open Angle Glaucoma Development

Magda Cuchra ¹ , Ireneusz Majsterek ¹ , Katarzyna Szymanek ² , Jerzy Szaflik ² , Jacek P. Szaflik ³

¹ Zakład Chemii i Biochemii Klinicznej Uniwersytetu Medycznego w Łodzi
Kierownik: prof. dr hab. n. med. Ireneusz Majsterek
² Samodzielny 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: Glaucoma is one of the main risk of irreversible vision loss. It is suggested that oxidative stress may be one of the most important risk factor for glaucoma development. It is underlined that the level of oxidative DNA damage in human trabecular meshwork correlate with visual field loss. The main pathway, which is involved in removing oxidative DNA damage is base excision repair.
The aim of this study was to evaluate the role of novel polymorphism -77 T/C of XRCC1 gene and G1672A of ADPRT/PARP1 gene with the risk of primary open angle glaucoma development. 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, the role of studied genes in progression of primary open angle glaucoma in relation to clinical parameters was analyzed.
In presented study, we indicated the role of the G1672A ADPRT/PARP1 gene polymorphism in the increased risk of primary open angle glaucoma (OR 3.95, 95% CI 1.07–14.56, p=0.02). Moreover, we suggested the role of AA genotype (OR 2.50, 95% CI 1.06–5.92, p=0.03) and A allele (OR 2.14, 95% CI 1.24–3.66, p=0.005) of ADPRT/PARP1 gene with increased risk of primary open angle glaucoma progression in relation to cup to disc ratio. Moreover, we suggested that presence of A allele may be associated with increased risk of primary open angle glaucoma progression in relation to retinal nerve fiber layer.
Additionally, we postulated that presence of TC genotype of -77T/C XRCC1 gene may be associated with increased risk of primary open angle glaucoma progression in relation retinal nerve fiber layer.
Therefore, we postulate the role of base excision repair in primary open angle glaucoma development.

Słowa kluczowe: jaskra pierwotna otwartego kąta (JPOK), naprawa DNA przez wycinanie zasad azotowych, uszkodzenia oksydacyjne DNA.

Keywords: primary open angle glaucoma (POAG), base excision repair, oxidative DNA damage.

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