Abstract
To investigate the potential associations between keratoconus and catalase rs1001179, superoxide dismutase 2 rs4880, and glutathione peroxidase 1 rs1050450 gene polymorphisms in a Turkish population. The study group included 121 unrelated keratoconus patients and 94 unrelated healthy controls. Blood samples (200 ml) were collected from all patients and controls to isolate genomic DNA. Genotyping was performed to identify rs1001179, rs4880, and rs1050450 using real-time polymerase chain reaction (PCR). Genotype and allele frequencies were calculated; their associations with keratoconus risk were assayed, and the association with keratoconus risk and demographic factors was examined. Glutathione peroxidase 1 rs1050450 polymorphism was present in 41% cases compared with 29% controls (OR=1.66; 95% CI=1.11-2.50; p=0.014). No association was observed between catalase rs1001179 and SOD2 rs4880 polymorphisms and keratoconus (for all, p>0.05). This study evaluated possible relationships between rs1050450, rs1001179, and rs4880 polymorphisms and keratoconus susceptibility. We found a possible association between glutathione peroxidase 1 rs1050450 polymorphism and an increased risk of keratoconus. However, the genotype and allele frequencies were identical in the catalase rs1001179 and superoxide dismutase 2 rs4880 polymorphisms. Further studies are needed to analyze the effect of such variations in identifying keratoconus susceptibility.
Highlights
We found a possible association between glutathione peroxidase 1 rs1050450 polymorphism and an increased risk of keratoconus
We examined the genetic polymorphisms in the GPX1, SOD2, and CAT genes, and allele and genotype distributions are shown in table 2
Our main concern in researching CAT rs1001179, SOD2 rs4880, and GPX1 rs1050450 polymorphisms in KC pathogenesis stems from their distinct enzymatic properties
Summary
Steepening, and irregular astigmatism leading to deteriorated visual acuity and impaired quality of life. KC corneas accumulate cytotoxic end products of the nitric oxide and lipid peroxidation pathways and have impaired antioxidant enzymes and increased mitochondrial DNA damage[2,3,4,5,6,7]. These findings suggest that oxidative stress is significantly involved in the pathogenesis of KC. Additional genetic and molecular studies are needed to thoroughly define the underlying problem
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