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Genetics & The Pancreas

Genetics is the study of how diseases are passed from a parent to their child. Genetic research has provided a lot of information about genetic mutations that can cause pancreatitis.1

Although a great deal has been learned in the past several years about how genetic factors affect the pancreas, there is still a great deal of research to be performed. However, we have learned the following about genetics and the pancreas:

  • Hereditary pancreatitis is known to be caused by mutation of the trypsinogen PRSS1gene (rare).1
  • Acute and chronic pancreatitis are linked to mutation of the SPINK1 gene (common).1
  • People with genetic mutation of the CFTR gene, which causes cystic fibrosis, are known to have a 40- to 80-fold greater risk of developing chronic pancreatitis.1
  • Approximately 10% of pancreatic cancers may be caused by genetic factors.2


  1. Mullady DK, Yadav D, Amann ST, et al; NAPS2 Consortium. Type of pain, pain-associated complications, quality of life, disability and resource utilisation in chronic pancreatitis: a prospective cohort study. Gut 2011;60(1):77–84.
  2. Lieb JG 2nd, Forsmark CE. Review article: pain and chronic pancreatitis. Aliment Pharmacol Ther 2009;29(7):706–719.