Abstract
PurposeKeratoconus (KC) is a bilateral and noninflammatory disease, characterized by progressive thinning and anterior protrusion of the cornea and may result in severe visual impairment due to irregular astigmatism. Matrix metalloproteinases (MMP) are the main group of enzymes that degrade extracellular matrix proteins including collagens; Type IV collagen is found in the corneal stroma. MMP enzymatic activity is inhibited by tissue inhibitor of metalloproteinase-1 (TIMP-1). A decrease in TIMP-1 level is associated with the development of KC. In the present study, we investigated the impact of COL4A4 rs2228557 C/T and TIMP-1 rs4898 C/T (X-chromosome) variants on the odds of KC development in a sample of Iranian population.MethodsThis case–control study was conducted on 140 patients with KC and 150 healthy control subjects. We used modified methods of Nested-PCR and ARMS-PCR in combination (Nested-ARMS-PCR) and confirmed their validity with RFLP–PCR.ResultsSignificant differences were noticed between KC patients and healthy individuals regarding the genotype TY or T allele frequencies of rs4898 in the male subjects (OR = 0.43, 95%CI: 0.20–0.92, P = 0.03), whereas no significant differences were identified in the female subjects (OR = 1.07, 95%CI: 0.52–2.20, P = 0.85). The rs2228557, T allele was associated with KC (OR = 0.69, 95% CI: 0.50–0.97, P = 0.035).Conclusion In the rs2228557 variant, T allele acts as a protective factor from the disease and decreases the risk of KC compared with the C allele. Also, in our investigation about rs4898, we found that TY genotype or T allele decreased the risk of KC compared with the C allele in males and was a protective factor for KC in our population
Highlights
The present study aimed to evaluate the possible association of tissue inhibitor of metalloproteinase-1 (TIMP-1) rs4898 C/T gene polymorphism and COL4A4 rs2228557 C/T gene
The Col4A4 rs2228557 C/T variant, T allele was associated with a decrease in the risk of KC development (OR = 0.69, 95% confidence intervals (CI): 0.50–0.97, P = 0.035), as compared to C allele
Our results indicated that TT was not associated with KC as compared to CC (OR = 0.59, 95% CI = 0.34–1.03, P = 0.067) (Table 2)
Summary
Keratoconus (KC) is defined as a bilateral, non-inflammatory, and progressive disease. Association of TIMP-1 and COL4A4 Gene Polymorphisms with Keratoconus in an Iranian Population. Association of TIMP-1 and COL4A4 Gene Polymorphisms with Keratoconus; Yari et al characterized by conical protrusion of the cornea. This disease may result in severe visual impairment due to irregular astigmatism and stromal scarring. The symptoms of KC-affected patients are different depending on the stage of the disease.[1,2,3] Glasses or contact lenses can provide useful vision in the early stage of the disease; corneal transplantation is mandatory for visual rehabilitation in 20% of the patients who are in advanced stage. Central corneal thickness (CCT) is lower in KC patients by 75 μm as compared to normal controls.[4, 5]
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