Idiopathic pancreatitis related to CFTR: complex inheritance and identification of a modifier gene.

Journal Article (Journal Article;Review)

Idiopathic chronic pancreatitis (ICP) is the leading cause of nonalcoholic chronic pancreatitis. This study examined a series of patients with ICP to determine the prevalence and role of mutations of the cystic fibrosis gene (CFTR) and of a trypsin inhibitor gene (PSTI). Genetic testing was done in 39 patients with ICP. In this series, 17 patients had CFTR mutations and 9 had PSTI mutations. Pancreatitis risk was increased 14-fold by having the N34S PST1 mutation, 40-fold by having two abnormal copies of CFTR, and 600-fold by having both. In patients with two CFTR mutations, extrapancreatic clinical findings and nasal bioelectric responses suggested reduced residual CFTR protein function. Thus, pancreatitis risk showed complex inheritance and was highest in individuals who have abnormalities in both the pancreatic ducts (CFTR) and acini (PSTI). These findings indicate that PSTI is a modifier gene for CFTR-related ICP and have implications for the classification, diagnosis, and pathogenesis of pancreatitis.

Full Text

Duke Authors

Cited Authors

  • Cohn, JA; Noone, PG; Jowell, PS

Published Date

  • September 2002

Published In

Volume / Issue

  • 50 / 5

Start / End Page

  • 247S - 255S

PubMed ID

  • 12227654

International Standard Serial Number (ISSN)

  • 1081-5589

Digital Object Identifier (DOI)

  • 10.1136/jim-50-suppl5-01


  • eng

Conference Location

  • England