Polymorphism of the transferrin gene in eye diseases: keratoconus and Fuchs endothelial corneal dystrophy.

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Oxidative stress may play a role in the pathogenesis of keratoconus (KC ) and Fuchs endothelial corneal dystrophy (FECD ). Iron may promote the stress by the Fenton reaction , so its homeostasis should be strictly controlled . Transferrin is essential for iron homeostasis because it transports iron from plasma into cells . The malfunction of transferrin , which may be caused by variation in its gene (TF ) variation , may contribute to oxidative stress and change KC and FECD risk . To verify this hypothesis we investigated the association between three polymorphisms of the TF gene , g .3296 G >A (rs 8177178 ), g .3481 A >G (rs 8177179 ), and c .-2 G >A (rs 1130459 ), and KC and FECD occurrence . Genotyping was performed in blood lymphocytes in 216 patients with KC , 130 patients with FECD and 228 controls by PCR-RFLP . We studied also the influence of other risk factors . The A /A genotype and the A allele of the g .3296 G >A polymorphism were associated with KC occurrence , while the G allele was negatively correlated with it . We observed a decrease in KC occurrence associated with the A /G genotype of the g .3481 A >G polymorphism . We did not find any association between the c .-2 G >A polymorphism and KC . No association was found between all three polymorphisms and FECD occurrence .