title: Association between polymorphism of the DNA repair SMUG1 and UNG genes and age-related macular degeneration.
abstract: OBJECTIVE
  To investigate the association between the g.4235T>C (rs2337395) polymorphism of the UNG gene and the c.-31A>G (rs3087404) polymorphism of the SMUG1 gene and the risk of age-related macular degeneration (AMD), as well as modulation of this association by some environmental and lifestyle factors.
  
  
  METHODS
  Overall, 272 AMD patients and 105 control subjects were enrolled in this study. Both polymorphisms were genotyped by restriction fragment length polymorphism-polymerase chain reaction (PCR-RFLP).
  
  
  RESULTS
  The C/C genotype of the g.4235T>C polymorphism of the UNG gene was associated with an increased risk of dry AMD (odds ratio, 2.54), whereas the T/T genotype of this polymorphism decreased such risk (odds ratio, 0.41). The presence of the T allele of the g.4235T>C polymorphism and the A allele of the c.-31A>G polymorphism of the SMUG1 gene (odds ratio, 2.17 and 2.18, respectively) was associated with an increased risk of AMD severity, expressed by the comparison of the frequencies of genotypes in the group of patients with wet AMD versus those with dry AMD. Conversely, the C/C genotype of the g.4235T>C polymorphism, the G/G genotype of the c.-31A>G polymorphism, and the C/C-G/G combined genotype of both polymorphisms had a protective effect (odds ratio, 0.48, 0.46, and 0.18; respectively).
  
  
  CONCLUSIONS
  The results obtained suggest the potential role of the g.4235T>C and the c.-31A>G polymorphisms in AMD pathogenesis.
authors.affiliation: *Department of Molecular Genetics, University of Lodz, Pomorska, Lodz, Poland; †Department of Ophthalmology, Medical University of Warsaw, Warsaw, Poland; and ‡Samodzielny Publiczny Kliniczny Szpital Okulistyczny, Warsaw, Poland.
authors.forename: Ewelina
authors.initials: E
authors.lastname: Synowiec
authors.forename: Daniel
authors.initials: D
authors.lastname: Wysokinski
authors.forename: Malgorzata
authors.initials: M
authors.lastname: Zaras
authors.forename: Urszula
authors.initials: U
authors.lastname: Kolodziejska
authors.forename: Ewelina
authors.initials: E
authors.lastname: Stoczynska-Fidelus
authors.forename: Katarzyna
authors.initials: K
authors.lastname: Janik
authors.forename: Jerzy
authors.initials: J
authors.lastname: Szaflik
authors.forename: Janusz
authors.initials: J
authors.lastname: Blasiak
authors.forename: Jacek P
authors.initials: JP
authors.lastname: Szaflik
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D017931:DNA Primers / Q000737:chemistry; D004260:DNA Repair / Q000235:genetics*; D005260:Female; D005451:Fluorescein Angiography; D005838:Genotype; D057092:Geographic Atrophy / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide; D012307:Risk Factors; D041623:Tomography, Optical Coherence; D051981:Uracil-DNA Glycosidase / Q000235:genetics*; D057135:Wet Macular Degeneration / Q000235:genetics*
chemical_list: D017931:DNA Primers; C498095:SMUG1 protein, human; D051981:Uracil-DNA Glycosidase