Chymotrypsin C (CTRC) variants that diminish activity or secretion are associated with chronic pancreatitis

  title={Chymotrypsin C (CTRC) variants that diminish activity or secretion are associated with chronic pancreatitis},
  author={Jonas Rosendahl and Heiko Witt and Rich{\'a}rd Szmola and Eesh Bhatia and B{\'e}la {\'O}zsv{\'a}ri and Olfert Landt and H Schulz and Thomas M. Gress and Roland H. Pf{\"u}tzer and Matthias L{\"o}hr and Peter Kovacs and Matthias Bl{\"u}her and Michael Stumvoll and Gourdas Choudhuri and P{\'e}ter Hegyi and Ren{\'e} H. M. te Morsche and Joost P. H. Drenth and Kaspar Truninger and Milan Macek and Gero Puhl and Ulrike Witt and Hartmut T Schmidt and Carsten Buening and Johann Ockenga and Andreas Kage and David Alexander Groneberg and Renate G. Nickel and Thomas Berg and Bertram J Wiedenmann and Hans Boedeker and Volker Keim and Joachim Moessner and Niels Teich and Mikl{\'o}s Sahin-T{\'o}th},
  journal={Nature Genetics},
Chronic pancreatitis is a persistent inflammatory disease of the pancreas, in which the digestive protease trypsin has a fundamental pathogenetic role. Here we have analyzed the gene encoding the trypsin-degrading enzyme chymotrypsin C (CTRC) in German subjects with idiopathic or hereditary chronic pancreatitis. Two alterations in this gene, p.R254W and p.K247_R254del, were significantly overrepresented in the pancreatitis group, being present in 30 of 901 (3.3%) affected individuals but only… CONTINUE READING
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