title: Polymorphism of the LIG3 gene in keratoconus and Fuchs endothelial corneal dystrophy.
abstract: The product of the LIG3 gene encodes DNA ligase III, which is involved in the repair of oxidatively damaged DNA in the base excision repair pathway. We hypothesized that polymorphism in this gene may change susceptibility to oxidative stress and predispose individuals to the development of keratoconus (KC) and Fuchs endothelial corneal dystrophy (FECD). Therefore, we investigated the association between genotypes and haplotypes of the g.29661G>A polymorphism (rs1003918) and the g.29059C>T polymorphism (rs1052536) of the LIG3 gene and the occurrence of KC and FECD in patients with FECD (258 individuals) or KC (283) and ethnically matched controls (300). The A/A genotype and the A allele of the g.29661G>A polymorphism were associated with increased occurrence of KC, while the G allele of this polymorphism was positively correlated with a decreased occurrence of this disease. The T/C genotype of the g.29059C>T polymorphism was associated with decreased FECD occurrence. In addition, the AT haplotype was associated with increased occurrence of KC and FECD, while the GT haplotype was associated with decreased occurrence of these diseases. The g.29661G>A and g.29059C>T polymorphisms may play a role in the KC and FECD pathogenesis and can be considered as markers in these diseases.
authors: University of Lodz Department of Molecular Genetics Lodz Poland.
authors: E
authors: E
authors: Synowiec
authors: University of Lodz Department of Molecular Genetics Lodz Poland.
authors: K A
authors: KA
authors: Wojcik
authors: Medical University of Warsaw and Samodzielny Publiczny Kliniczny Szpital Okulistyczny Department of Ophthalmology Warsaw Poland.
authors: J
authors: J
authors: Izdebska
authors: Medical University of Warsaw and Samodzielny Publiczny Kliniczny Szpital Okulistyczny Department of Ophthalmology Warsaw Poland.
authors: E
authors: E
authors: Binczyk
authors: Medical University of Warsaw and Samodzielny Publiczny Kliniczny Szpital Okulistyczny Department of Ophthalmology Warsaw Poland.
authors: J
authors: J
authors: Szaflik
authors: University of Lodz Department of Molecular Genetics Lodz Poland.
authors: J
authors: J
authors: Blasiak
authors: Medical University of Warsaw and Samodzielny Publiczny Kliniczny Szpital Okulistyczny Department of Ophthalmology Warsaw Poland szaflik&commat;ophthalmology.pl.
authors: J P
authors: JP
authors: Szaflik
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D016022:Case-Control Studies; D000072481:DNA Ligase ATP; D011088:DNA Ligases / Q000235:genetics*; D005060:Europe / Q000453:epidemiology; D005260:Female; D005642:Fuchs' Endothelial Dystrophy / Q000453:epidemiology / Q000208:ethnology / Q000235:genetics*; D005787:Gene Frequency / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000453:epidemiology / Q000208:ethnology / Q000235:genetics*; D005838:Genotype; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D007640:Keratoconus / Q000453:epidemiology / Q000208:ethnology / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D018384:Oxidative Stress / Q000235:genetics; D000075223:Poly-ADP-Ribose Binding Proteins; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D015995:Prevalence; D029867:Xenopus Proteins
chemical_list: D000075223:Poly-ADP-Ribose Binding Proteins; D029867:Xenopus Proteins; D011088:DNA Ligases; D000072481:DNA Ligase ATP; C000618816:DNA ligase III alpha protein, Xenopus; C000618817:LIG3 protein, human