Genetics of pancreatitis

Curr Opin Gastroenterol. 2011 Sep;27(5):467-74. doi: 10.1097/MOG.0b013e328349e2f8.


Purpose of review: Chronic pancreatitis is a syndrome characterized by chronic inflammation of the pancreas, with variable pain, calcifications, necrosis, fatty replacement, fibrosis and scarring and other complications. Disease susceptibility, severity, progression and pain patterns vary widely and do not necessarily parallel one another. Much of the variability in susceptibility to recurrent acute and chronic pancreatitis is now clearly shown to be related to genetic differences between patients. This review highlights recent advances and future directions in genetic research.

Recent findings: The strongest risk factors are associated with genetic variations in PRSS1, SPINK1, CFTR, and to a lesser extent, CTRC and CASR. The latest research suggest that a single factor rarely causes pancreatitis, and the majority of patients with recurrent acute and chronic pancreatitis have multiple variants in a gene, or epistatic interactions between multiple genes, coupled with environmental stressors.

Summary: Pancreatic diseases have a strong genetic component. Rather than a classic Mendelian disorder, recurrent acute and chronic pancreatitis represents truly complex diseases with the interaction and synergism of multiple genetic and environmental factors. The future will require new predictive models to guide prevention and therapy.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Carrier Proteins / genetics
  • Chymotrypsin / genetics
  • Cystic Fibrosis Transmembrane Conductance Regulator / genetics
  • Epistasis, Genetic
  • Genetic Predisposition to Disease*
  • Humans
  • Pancreatitis, Chronic / genetics*
  • Receptors, Calcium-Sensing / genetics
  • Recurrence
  • Trypsin / genetics
  • Trypsin Inhibitor, Kazal Pancreatic


  • Carrier Proteins
  • Receptors, Calcium-Sensing
  • SPINK1 protein, human
  • Cystic Fibrosis Transmembrane Conductance Regulator
  • Trypsin Inhibitor, Kazal Pancreatic
  • Chymotrypsin
  • chymotrypsin C
  • PRSS1 protein, human
  • Trypsin