Abstract
Purpose :
Keratoconus (KC), the most prevalent primary ectatic corneal disease, causes progressive corneal thinning that alters the cornea's shape and structure, eventually impairing vision. The release of interleukin 1 (IL1), a pleiotropic cytokine involved in the inflammatory response and cell growth, is associated with prolonged mechanical damage to the corneal epithelium caused by KC. So, assessing interleukin 1 (IL1) gene variants' association with KC risk gets more critical. This countrywide registration study of a sample Iranian population intends to investigate the relationship between KC and two recognized single nucleotide polymorphisms (SNPs) associated with IL1B, rs16944 and rs1143634.
Methods :
Clinical criteria—Vogt's striae, Fleischer's ring, corneal stromal thinning and protrusion, and video-keratography—diagnosed KC. All suspicious patients were screened for mild KC with Pentacam HR and Corvis ST. The tetra-primer amplification-refractory mutation system-polymerase chain reaction (T-ARMS PCR) isolated genomic DNA from peripheral blood samples to determine their genotypes. The institutional review board and ethics committee of the Ophthalmic Research Center, Research Institute for Ophthalmology and Vision Science, Shahid Beheshti University of Medical Sciences, Tehran, Iran, authorized this study, which met Helsinki Declaration requirements.
Results :
The genotypic frequencies of rs16944 and rs1143634 were substantially different between patients and controls. KC patients had a considerably higher frequency of the rs16944 C allele carriers compared to healthy controls based on chi-square and Fisher's Exact analysis. The sex stratification did not identify appreciable differences in genotype frequency between males and females.
Conclusions :
In a population of Iranian origin, rs16944 and rs1143634 are closely connected to KC.
This abstract was presented at the 2023 ARVO Annual Meeting, held in New Orleans, LA, April 23-27, 2023.