Роль генов антиоксидантной системы в формировании предрасположенности к развитию цереброваскулярных заболеваний: анализ ассоциаций однонуклеотидных полиморфизмов и метилирования ДНК

Abstract

PURPOSE: To study association of some antioxidant defense genes polymorphisms with pseudoexfoliative glaucoma (PXG). METHODS: 224 patients with PXG and 152 healthy controls were genotyped through polymerase chain reaction and restriction fragment length techniques for 3 antioxidant system genes polymorphisms: P1I105V of the glutathione S-transferase P1 (GSTP1), T718C of the glutathione peroxidase (GPX4) and Pro187Ser of the quinone oxidoreductase type 1 (NQO1). RESULTS: Presence of mutant allele Val105 of GSTP1 was associated with increased risk of PXG (OR=1.76, 95%CI 1.272.42). Val105Val genotype in PXG patients was determined four times more often than in control subjects (p 2 =4.65, р=0.03; OR=1.88, 95% CI 1.06-3.36). Val105Val genotype of GSTP1 presented a risk factor for both, «early» (x2=5.88, р=0.02; OR=3.53, 95% CI 1.21-10.35) and «late» (x2=15.46, р<0.0001; OR=5.69, 95% CI 2.29-14.15) onset of the disease. Genotype Ile105Ile of GSTP1 was determined as an anti-risk factor for «late» onset group of PXG (x2=5.00, р=0.03; OR=1.68, 95% CI 1.06-2.64). CONCLUSION: The corellation of polymorphisms of some antioxidant genes with PXG has been studied for the first time in Central Russian population. Polymorphic variants of GSTP1 и GPX4 were determined as genetic markers of PXG. The study results confirm the important role of the genes of antioxidant system in determining susceptibility to PXG, and may help in «risk» group formation.