Volume 121, Issue 6, Pages 1310-1319 (December 2001) Cystic fibrosis gene mutations and pancreatitis risk: Relation to epithelial ion transport and trypsin inhibitor gene mutations Peadar G. Noone, Zhaoqing Zhou, Lawrence M. Silverman, Paul S. Jowell, Michael R. Knowles, Jonathan A. Cohn Gastroenterology Volume 121, Issue 6, Pages 1310-1319 (December 2001) DOI: 10.1053/gast.2001.29673 Copyright © 2001 American Gastroenterological Association Terms and Conditions
Fig. 1 CFTR function in the nasal epithelium in genotyped subjects with pancreatitis. CFTR-mediated Cl− conductance (ΔPD) was measured in subjects with pancreatitis who had 0 vs. 2 CFTR mutations, and compared with published values for normal controls and for individuals with classic cystic fibrosis.20 Subjects with CFTR-related pancreatitis (i.e., those with 2 mutations) differed significantly from subjects without CFTR mutations, from normal controls, and from individuals with CF based on their ΔPD values (P < 0.01 for each comparison). This indicates that these subjects had less CFTR-mediated ion transport than normal but that this loss of function was less severe than in cystic fibrosis. One study subject with a CF-causing mutation had a normal second CFTR allele based on DNA sequencing; his ΔPD value of −20 mV (not shown) was normal, as anticipated based on published data for obligate CF carriers.32 Gastroenterology 2001 121, 1310-1319DOI: (10.1053/gast.2001.29673) Copyright © 2001 American Gastroenterological Association Terms and Conditions