A UK Biobank Study on Genetic Variants in Pattern-Recognition Receptor (PRR) Signaling Indicates Self-Perpetuatin Inflammation of Cholesteatoma.

ABSTRACT: Background: Acquired cholesteatoma is a chronic inflammatory middle ear disease characterized by keratinizing squamous epithelium overgrowth and bone erosion. While the upregulation of pattern-recognition receptor (PRR) signaling has been consistently observed, it remains unclear whether this reflects a secondary response to microbial infection or a primary dysfunction driven by genetic predisposition. Methods: Using the UK Biobank, we analyzed 678 individuals with cholesteatoma (ICD-10: H71) among 502,164 participants. Candidate genes implicated in cholesteatoma-related inflammatory pathways (n = 17) were selected, and 147 polymorphisms were studied. Gene-specific genetic risk scores (GRSs) were calculated for cholesteatoma patients (GRSchol) and the general UK Biobank popul

SUBMITTER: Almomani M 

PROVIDER: S-EPMC12941801 | biostudies-literature | 2026 Feb

REPOSITORIES: biostudies-literature