IL1A and IL1B gene polymorphisms and keratoconus susceptibility: evidence from an updated meta-analysis

Abstract

ABSTRACT Background: Several single-nucleotide polymorphisms (SNPs) in IL1B genes have been associated with KTCN. However, the results of these studies were not conclusive. This meta-analysis association study is aimed to quantitatively estimate the association of IL1B rs16944 (g.4490T>C) and rs1143627 (g.4970C>T), and IL1A rs2071376 (c.615 + 169C>A) polymorphisms with KTCN susceptibility. Materials and Methods: Systematic literature search was performed in Web of Science, MEDLINE, PubMed, Scopus, and Google Scholar databases. The odds ratios (ORs) and 95% confidence intervals (CI) were calculated assuming different contrasted genetic models. Results: The reference T allele of IL1B (g.4490T>C) polymorphism was significantly associated with decreased KTCN risk under all assessed genetic models. Regarding the reference C allele of IL1B (g.4970C>T) polymorphism, decreased risk of KTCN was found. The reference C allele of IL1A (c.615 + 169C>A) polymorphism conferred a decreased risk of KTCN under heterozygous codominant (AC vs. AA), homozygous codominant (CC vs. AA), and dominant (AC+CC vs. AA) genetic models. The pooling estimates showed that the T C haplotype was associated with a significant increase in KTCN risk. In contrast, the T T haplotype was correlated with a decreased risk of KTCN. With the assumption of a prior probability of 0.25, the false‐positive report probability (FPRP) values were less than 0.2, indicating the observed significant associations were notable. Conclusion: These findings propose that the studied IL1B polymorphisms and the IL1A variation have opposite effects on KTCN susceptibility. More large-scale replication studies are warranted to illuminate the precise role of these SNPs on the etiology of eye disorders.