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

Publication ,  Journal Article
Cohn, JA; Noone, PG; Jowell, PS
Published in: J Investig Med
September 2002

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.

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Published In

J Investig Med

DOI

ISSN

1081-5589

Publication Date

September 2002

Volume

50

Issue

5

Start / End Page

247S / 255S

Location

England

Related Subject Headings

  • Transcription Factors
  • Saccharomyces cerevisiae Proteins
  • Risk Factors
  • Repressor Proteins
  • Polymorphism, Genetic
  • Pancreatitis
  • Mutation
  • Middle Aged
  • Male
  • Humans
 

Citation

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ICMJE
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Cohn, J. A., Noone, P. G., & Jowell, P. S. (2002). Idiopathic pancreatitis related to CFTR: complex inheritance and identification of a modifier gene. J Investig Med, 50(5), 247S-255S. https://doi.org/10.1136/jim-50-suppl5-01
Cohn, Jonathan A., Peadar G. Noone, and Paul S. Jowell. “Idiopathic pancreatitis related to CFTR: complex inheritance and identification of a modifier gene.J Investig Med 50, no. 5 (September 2002): 247S-255S. https://doi.org/10.1136/jim-50-suppl5-01.
Cohn JA, Noone PG, Jowell PS. Idiopathic pancreatitis related to CFTR: complex inheritance and identification of a modifier gene. J Investig Med. 2002 Sep;50(5):247S-255S.
Cohn, Jonathan A., et al. “Idiopathic pancreatitis related to CFTR: complex inheritance and identification of a modifier gene.J Investig Med, vol. 50, no. 5, Sept. 2002, pp. 247S-255S. Pubmed, doi:10.1136/jim-50-suppl5-01.
Cohn JA, Noone PG, Jowell PS. Idiopathic pancreatitis related to CFTR: complex inheritance and identification of a modifier gene. J Investig Med. 2002 Sep;50(5):247S-255S.

Published In

J Investig Med

DOI

ISSN

1081-5589

Publication Date

September 2002

Volume

50

Issue

5

Start / End Page

247S / 255S

Location

England

Related Subject Headings

  • Transcription Factors
  • Saccharomyces cerevisiae Proteins
  • Risk Factors
  • Repressor Proteins
  • Polymorphism, Genetic
  • Pancreatitis
  • Mutation
  • Middle Aged
  • Male
  • Humans