Transcriptome analysis identifies genetic risk markers and explores the pathogenesis for inflammatory bowel disease

Area of Science:

• Gastroenterology
• Immunology
• Molecular Biology

Background:

• Inflammatory bowel disease (IBD) is a chronic, disabling condition with limited treatment options.
• Understanding the molecular mechanisms underlying IBD pathogenesis is crucial for developing effective therapies.

Purpose of the Study:

• To investigate the molecular pathogenesis of IBD using integrated transcriptomic and immune-related analyses.
• To identify key regulatory pathways and potential therapeutic targets in IBD.

Main Methods:

• Integrated RNA-sequencing data from 1238 IBD patients.
• Transcriptional element prediction analysis.
• Immune-related analyses and immune infiltration analysis.

Main Results:

• KIAA1109 expression is significantly inhibited in IBD patients.
• A negative correlation was observed between KIAA1109 and NOD2 expression.
• The NOD-like receptor pathway, involving NFκB and AP1, regulates CXCL1 and CXCL2, impacting immune cell-mediated inflammation.

Conclusions:

• The KIAA1109-NOD2-NFκB/AP1-CXCL1/CXCL2 regulatory axis represents a key molecular mechanism in IBD pathogenesis.
• This axis provides a new perspective for IBD diagnosis, treatment, and management.