Transcriptomic profiling reveals neural-immune-stromal dysregulation and risk-associated gene signatures in advanced keratoconus.

ABSTRACT: This study aimed to characterize transcriptomic alterations and the effects of demographic and behavioral risk factors on disease-associated gene expression patterns in late-stage keratoconus (KC). Corneal stromal tissues from 31 KC patients and four normal donors underwent bulk RNA sequencing. Differentially expressed genes (DEGs) and weighted gene co-expression network analysis (WGCNA) were used to identify key molecular changes. Subgroup analyses based on sex, allergy status, eye rubbing intensity (ERI), body mass index (BMI), and childhood socioeconomic status (SES) were conducted using gene set enrichment analysis (GSEA) and WGCNA. Key genes from WGCNA modules were validated by quantitative real-time PCR (qRT-PCR) and three public transcriptomic datasets. Enrichment analyses based on

SUBMITTER: Du K 

PROVIDER: S-EPMC12552476 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature