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Molecular Genetics of Chronic Pancreatitis

  1. Richard Szmola1,
  2. David C Whitcomb2

Published Online: 15 MAR 2009

DOI: 10.1002/9780470015902.a0021481



How to Cite

Szmola, R. and Whitcomb, D. C. 2009. Molecular Genetics of Chronic Pancreatitis. eLS. .

Author Information

  1. 1

    Boston University Medical Center, Boston, Massachusetts, USA

  2. 2

    University of Pittsburgh, Pittsburgh, Pennsylvania, USA

Publication History

  1. Published Online: 15 MAR 2009


Chronic pancreatitis is a progressive inflammatory condition of the pancreas that results in impairment of both exocrine and endocrine functions of the gland. The finding that a mutation in the cationic trypsinogen gene (PRSS1) causes hereditary pancreatitis was a major breakthrough that stimulated intensive research into the genetics of chronic pancreatitis. Further disease-causing mutations were identified in the PRSS1 gene, and mutations in novel genes (SPINK1, CFTR, CTRC, CASR) have been described in patients with idiopathic chronic pancreatitis. Genetic and biochemical studies highlighted the importance of the tightly regulated balance between trypsin activation and inactivation in the pathogenesis of pancreatitis.


  • chronic pancreatitis;
  • hereditary pancreatitis;
  • cationic trypsinogen;
  • SPINK1;
  • CTRC