ASSOCIATION BETWEEN POLYMORPHISM OF THE DNA REPAIR SMUG1 AND UNG GENES AND AGE-RELATED MACULAR DEGENERATION

Retina (Philadelphia, Pa.)

Link between DNA repair gene variations and age-related vision loss

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Abstract

The C/C genotype of the g.4235T>C polymorphism of the UNG gene is associated with a 2.54 times increased risk of dry age-related macular degeneration (AMD).

  • The T/T genotype of the g.4235T>C polymorphism is associated with a decreased risk of dry AMD (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 is associated with an increased risk of AMD severity, each with an odds ratio of approximately 2.17.
  • The C/C genotype of the g.4235T>C polymorphism and the G/G genotype of the c.-31A>G polymorphism are associated with a protective effect against AMD (odds ratios of 0.48 and 0.46, respectively).
  • The combined C/C-G/G genotype of both polymorphisms shows a strong protective effect with an odds ratio of 0.18.

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