Polymorphism of the DNA Base Excision Repair Genes in Keratoconus

International Journal of Molecular Sciences

Katarzyna A. Wojcik¹  Ewelina Synowiec¹  Katarzyna Sobierajczyk¹  Justyna Izdebska²  Janusz Blasiak¹  Jerzy Szaflik²  Jacek P. Szaflik² 

[1] Department of Molecular Genetics, University of Lodz, Pomorska 141/143, 90-236 Lodz, Poland; E-Mails:;Department of Ophthalmology, Medical University of Warsaw, SPKSO Ophthalmic Hospital, Sierakowskiego 13, 03-709 Warsaw, Poland; E-Mails:

关键词: keratoconus;    base excision repair;    NEIL1;    PARP-1;    POLG;    XRCC1;   

DOI  :  10.3390/ijms151119682

来源: mdpi

【 摘 要 】

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.

【 授权许可】

CC BY   
© 2014 by the authors; licensee MDPI, Basel, Switzerland.