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Genome-wide Association Analysis for Organ Failure in Acute Pancreatitis.
Apostolos Gaitanidis1,2, Mathias A Christensen1,3, Katherine Albutt1
1Division of Trauma, Emergency Surgery and Surgical Critical Care, Massachusetts General Hospital, Boston, MA.
Pancreas
|October 14, 2025
Summary
Genetic factors may influence acute pancreatitis (AP) organ failure. Genome-wide association studies identified nine candidate loci, with three genes (CHD9, FYB, MMADHC) showing differential expression, suggesting potential therapeutic targets for AP complications.
Area of Science:
- Genetics and Genomics
- Gastroenterology
- Systems Biology
Background:
- Acute pancreatitis (AP) presents with variable organ failure severity.
- Genetic predisposition is hypothesized to influence AP-related organ failure.
- Genome-wide association studies (GWAS) and transcriptomic analyses are employed to investigate genetic factors.
Purpose of the Study:
- To identify genetic loci associated with organ failure in acute pancreatitis.
- To explore the role of gene expression in AP pathogenesis and severity.
- To discover potential therapeutic targets for managing AP-induced organ failure.
Main Methods:
- Retrospective analysis of Mass General Brigham Biobank patients with AP.
- Categorization of AP patients based on respiratory/renal failure and etiology (biliary vs. other).
- Meta-analysis of GWAS data to identify candidate loci (P<1e-05) and eQTL analysis in immune cells; differential gene expression analysis using GEO database.
Main Results:
- A total of 665 AP patients were analyzed (211 biliary, 454 other etiologies).
- Nine candidate loci associated with AP organ failure were identified, with rs12185172 showing the strongest association (P=1.13e-06).
- Five genes with eQTLs in candidate loci were found; CHD9, FYB, and MMADHC were differentially expressed in AP.
Conclusions:
- GWAS identified nine candidate loci for AP organ failure, though none reached genome-wide significance.
- Three genes (CHD9, FYB, MMADHC) were highlighted through eQTL and differential expression analyses.
- These genes represent potential novel therapeutic targets for organ failure in acute pancreatitis.
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