Mendelian randomization and genetic analyses reveal causal roles of immune cells and inflammatory proteins in keratoconus.

ABSTRACT: Immunity and inflammation are implicated in the progression of keratoconus (KC), but the causal relationships between inflammatory immune phenotypes and the disease remain unclear. We conducted a comprehensive Mendelian randomization (MR) analysis using GWAS data to investigate the causal effects of inflammatory and immune factors on KC. Multiple sensitivity analyses were performed to validate our findings, with significant results confirmed through meta-analyses using independent GWAS datasets. The Steiger test, LD score regression, and multivariate MR were applied to assess independent effects. Analysis of inflammatory proteins revealed that IL-12B (P_IVW = 8.26 × 10^-5) and IL-13 (P_IVW = 0.012) were associated with an increased risk of KC, whereas IL-17 A (P_IVW

SUBMITTER: Chen J 

PROVIDER: S-EPMC12267647 | biostudies-literature | 2025 Jul

REPOSITORIES: biostudies-literature