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Wydanie 1/2011
str. 18

Związek polimorfizmów genów XRCC1 i OGG1 z ryzykiem występowania jaskry pierwotnej otwartego kąta w populacji polskiej

Association of XRCC1 and OGG1 Gene Polymorphisms with a Risk Occurrence of Primary Open-angle Glaucoma

Magda Cuchra¹, Jacek P. Szaflik², Mira Gacek², Karolina Przybyłowska¹, Anna Kurowska², Anna Kamińska², Jerzy Szaflik², Ireneusz Majsterek¹

¹ Zakład Chemii i Biochemii Klinicznej Uniwersytetu Medycznego w Łodzi
Kierownik: prof. nadzw. dr hab. n. biol., prof. ndzw. Ireneusz Majsterek
² Katedra i Klinika Okulistyki II Wydziału Lekarskiego Warszawskiego Uniwersytetu Medycznego
Samodzielny Publiczny Kliniczny Szpital Okulistyczny w Warszawie
Kierownik: prof. dr hab. n. med. Jerzy Szaflik

Summary: Purpose: Glaucoma is a heterogeneous group of ocular disorder, which is characterized by progressive degeneration of optic nerve axon. World Human Organization’s reports suggest that glaucoma is the second disorder after cataract, which lends to blindness. In spite of many research the genetic basis is still unclear. However, a number of studies have shown that oxidative damage might play important role in development of primate open-angle glaucoma. Base excision repair is responsible of removing oxidative DNA lesion. Therefore the aim of our study was to evaluate an association of the Arg399Gln XRCC1 and the Ser326Cys OGG1 gene polymorphisms with risk occurrence of primary open-angle glaucoma.
Methods: Our study included 139 patients with POAG (mean age 72 ± 12) and 145 healthy case controls (mean age 69 ± 15). Gene polymorphisms were analyzed by PCR-reaction fragment length polymorphisms (PCR-RFLP). PCR product was overnight digested with specific restriction endonucleases of MspI for XRCC1 and Fnu4HI for OGG1 gene polymorphisms.
Results: We showed that the Arg/Gln XRCC1 genotype was associated with an increase risk of primary open angle glaucoma (OR 1.93, 95% CI 1.13-3.29). We did not observe a statistically significant difference in the alleles and genotype frequency in OGG1 polymorphisms between POAG patients and controls. However, we observed that Arg/Gln-Ser/Ser combined genotype of XRCC1 and OGG1 genes (OR 1.92, 95% CI 1.00-3.67) might increase a risk of POAG.
Conclusion: In conclusion we suggest that the Arg399Gln XRCC1 polymorphism of base excision repair gens may be important factor primary open-angle glaucoma in a Polish population.

Słowa kluczowe: jaskra pierwotna otwartego kąta, naprawa DNA przez wycinanie zasad, polimorfizm genetyczny, XRCC1, OGG1

Keywords: Primary open-angle glaucoma, gene polymorphism, base excision repair, XRCC1, OGG1.

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