Integrative Analysis of Whole Exome Sequencing and Gene Expression to Uncover Genetic Mechanisms in Inflammatory Bowel Disease

Background/Objectives: Inflammatory bowel disease (IBD) is a chronic immune-mediated disorder of the gastrointestinal tract. This study aimed to nominate candidate genes and pathways for IBD by integrating exome sequencing and gene expression data.

Methods

Whole-exome sequencing (WES) was performed on 10 patients with Crohn's disease (CD). Differential expression was analyzed with GEO2R in an independent RNA-seq dataset (GSE193677; 2490 biopsies from 1162 subjects). Immune-related differentially expressed genes (DEGs) were identified with ImmPort, hub genes by protein-protein interaction analysis, and enriched pathways with Enrichr. Missense variants were modeled with AlphaFold 3.