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

Area of Science:

• Genetics and Ophthalmology
• Molecular Biology
• Population Genetics

Background:

• Keratoconus is a progressive corneal ectasia with multifactorial etiology.
• Genetic factors are implicated in keratoconus development, but specific gene associations require further investigation.
• Interleukin 1 beta (IL1B) is a pro-inflammatory cytokine with a potential role in ocular tissue remodeling.

Purpose of the Study:

• To investigate the association between IL1B promoter polymorphisms and keratoconus in an Egyptian population.
• To determine if these polymorphisms correlate with keratoconus disease severity.

Main Methods:

• A case-control study involving 95 Egyptian keratoconus patients and 126 healthy controls.
• Genotyping of two IL1B single nucleotide polymorphisms (SNPs): rs1143627 and rs16944, using Taqman real-time PCR.
• Comparison of allele, genotype, and haplotype frequencies between cases and controls, and correlation with clinical parameters.

Main Results:

• Significant associations were found between IL1B SNPs rs1143627 and rs16944 and keratoconus risk.
• The T allele of rs1143627 and G allele of rs16944, along with their respective TT and GG genotypes, were strongly associated with increased keratoconus risk.
• The G allele and GG genotype of rs16944 were significantly correlated with increased corneal curvature measurements (Kf, Ks, Kavg), indicating a link to disease severity.

Conclusions:

• IL1B promoter polymorphisms rs1143627 and rs16944 are associated with keratoconus susceptibility in the Egyptian population.
• These genetic variations in IL1B may contribute to both the development and severity of keratoconus.
• IL1B warrants further investigation as a potential therapeutic target in keratoconus management.