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Int. J. Mol. Sci. 2014, 15(11), 19682-19699;

Polymorphism of the DNA Base Excision Repair Genes in Keratoconus

Department of Molecular Genetics, University of Lodz, Pomorska 141/143, 90-236 Lodz, Poland
Department of Ophthalmology, Medical University of Warsaw, SPKSO Ophthalmic Hospital, Sierakowskiego 13, 03-709 Warsaw, Poland
Author to whom correspondence should be addressed.
Received: 5 August 2014 / Revised: 8 October 2014 / Accepted: 16 October 2014 / Published: 29 October 2014
(This article belongs to the Special Issue DNA Damage and Repair in Degenerative Diseases 2014)
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Keratoconus (KC) is a degenerative corneal disorder for which the exact pathogenesis is not yet known. Oxidative stress is reported to be associated with this disease. The stress may damage corneal biomolecules, including DNA, and such damage is primarily removed by base excision repair (BER). Variation in genes encoding BER components may influence the effectiveness of corneal cells to cope with oxidative stress. In the present work we genotyped 5 polymorphisms of 4 BER genes in 284 patients and 353 controls. The A/A genotype of the c.–1370T>A polymorphism of the DNA polymerase γ (POLG) gene was associated with increased occurrence of KC, while the A/T genotype was associated with decreased occurrence of KC. The A/G genotype and the A allele of the c.1196A>G polymorphism of the X-ray repair cross-complementing group 1 (XRCC1) were associated with increased, and the G/G genotype and the G allele, with decreased KC occurrence. Also, the C/T and T as well as C/C genotypes and alleles of the c.580C>T polymorphism of the same gene displayed relationship with KC occurrence. Neither the g.46438521G>C polymorphism of the Nei endonuclease VIII-like 1 (NEIL1) nor the c.2285T>C polymorphism of the poly(ADP-ribose) polymerase-1 (PARP-1) was associated with KC. In conclusion, the variability of the XRCC1 and POLG genes may play a role in KC pathogenesis and determine the risk of this disease. View Full-Text
Keywords: keratoconus; base excision repair; NEIL1; PARP-1; POLG; XRCC1 keratoconus; base excision repair; NEIL1; PARP-1; POLG; XRCC1
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited (CC BY 4.0).

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Wojcik, K.A.; Synowiec, E.; Sobierajczyk, K.; Izdebska, J.; Blasiak, J.; Szaflik, J.; Szaflik, J.P. Polymorphism of the DNA Base Excision Repair Genes in Keratoconus. Int. J. Mol. Sci. 2014, 15, 19682-19699.

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