The Association Between Interleukin 1 Beta Promoter Polymorphisms And Keratoconus Incidence And Severity In An Egyptian Population

• Published in: Clinical ophthalmology (Auckland, N.Z.) N.Z.), 2019-11, Vol.13, p.2217-2223
• Main Authors: Nabil, Karim Mahmoud, Elhady, Ghada Mohamed, Morsy, Heba
• Format: Article
• Language: English
• Subjects: Alzheimer's disease; Chromosomes; Cornea; Cytokines; Deoxyribonucleic acid; DNA; egypt; Genes; Genetic aspects; Genetic polymorphisms; Genotype & phenotype; Growth factors; interleukin 1 beta; Interleukins; Keratoconus; Medical research; Medicine; Minority & ethnic groups; Mutation; Original Research; Polymorphism; Population; promoter polymorphisms; Single nucleotide polymorphisms; Studies; Topography
• ISSN: 1177-5467; 1177-5483; 1177-5483
• DOI: 10.2147/OPTH.S220723

In the present study, we investigated whether interleukin 1 beta ( promoter polymorphisms are associated with keratoconus in an Egyptian population and their association with disease severity. A total of 95 Egyptian keratoconus patients and 126 Egyptian healthy controls were enrolled in the study. Two single nucleotide polymorphisms (SNPs) (rs1143627 and rs16944) were genotyped using Taqman real-time PCR to compare haplotype, genotype, and allele frequencies between cases and controls (primary outcome) and their association with disease severity (secondary outcome). Statistically significant association was observed for rs1143627 and rs16944; the T allele of rs1143627 and the G allele of rs16944 were associated with an increased risk of keratoconus (p < 0.001, odds ratio = 3.313, 4.770, respectively). The TT genotype of rs1143627 and the GG genotype of rs16944 were strongly associated with an increased risk of keratoconus (p < 0.001, odds ratio = 5.631, 11.478, respectively). The G allele of rs16944 was associated with an increased curvature of the flattest corneal meridian Kf in keratoconus (p = 0.041). The GG genotype of rs16944 was associated with an increased curvature of the flattest corneal meridian Kf, steepest corneal meridian Ks and average corneal curvature Kavg in keratoconus (p = 0.01, 0.046, 0.023, respectively). is suspected to play a crucial role, both in development and severity of keratoconus in Egyptian population.