Idiopathic Pancreatitis Related to CFTR: Complex Inheritance and Identification of a Modifier Gene

@article{Cohn2002IdiopathicPR,
  title={Idiopathic Pancreatitis Related to CFTR: Complex Inheritance and Identification of a Modifier Gene},
  author={J. Cohn and P. Noone and P. Jowell},
  journal={Journal of Investigative Medicine},
  year={2002},
  volume={50},
  pages={247 - 255}
}
  • J. Cohn, P. Noone, P. Jowell
  • Published 2002
  • Medicine
  • Journal of Investigative Medicine
    • 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 PSTI mutation, 40-fold by having two abnormal… CONTINUE READING
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