Genetics and Genomics of Pancreatitis
A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Human Genomics and Genetic Diseases".
Deadline for manuscript submissions: 10 February 2026 | Viewed by 1
Special Issue Editor
Interests: chronic pancreatitis; genetics; mutational mechanisms; mutation; human genetic disease
Special Issues, Collections and Topics in MDPI journals
Special Issue Information
Dear Colleagues,
Pancreatitis, including recurrent acute and chronic forms, is a complex disorder shaped by the interplay of genetic susceptibility and environmental triggers. Advances in genetics and genomics have identified key disease-associated genes (e.g., PRSS1, SPINK1, CFTR, CTRC) that influence pancreatic protease regulation, ductal function, and cellular stress responses. These discoveries reveal how specific mutations—from gain-of-function variants in PRSS1 to loss-of-function changes in SPINK1—disrupt critical pathways through distinct mutational mechanisms, leading to pancreatic injury and inflammation.
A central focus involves understanding gene–environment interactions, where genetic risk variants synergize with factors like alcohol consumption, smoking, or metabolic disorders to drive disease progression. Genomic studies now enable stratification of patients based on their genetic profiles, identifying those at highest risk for recurrent acute pancreatitis or progression to chronic pancreatitis. This approach also highlights the potential of pharmacogenomics, where genetic markers may predict treatment responses or drug-related pancreatitis risk.
Looking forward, the integration of genomics into clinical practice promises a new era of personalized medicine for pancreatitis. Genetic testing can guide early intervention strategies, while molecular profiling of individual patients may inform targeted therapies. Ongoing challenges include elucidating rare genetic variants, understanding non-coding regulatory mutations, and developing genotype-specific treatment approaches. These efforts will be crucial for improving outcomes in this genetically heterogeneous disease.This Special Issue welcomes all types of contributions that improve our understanding of the genetics of acute and chronic pancreatitis, including but not limited to topics such as genotype–phenotype relationship, gene–environment interaction, new gene and variant discovery, as well as genetic animal models of pancreatitis.
Dr. Jian-Min Chen
Guest Editor
Manuscript Submission Information
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Keywords
- recurrent acute pancreatitis
- chronic pancreatitis
- gene–environment interaction
- genetics
- genomics
- pharmacogenomics
- personalized medicine
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