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

Rosendahl J, Jonas Rosendahl, Heiko Witt, Witt H, Richárd Szmola, Szmola R, Bhatia E, Eesh Bhatia, Ozsvári B, Béla Ozsvári, Olfert Landt, Landt O, Schulz HU, Hans-Ulrich Schulz, Thomas M Gress, Gress TM, Roland Pfützer, Pfützer R, Matthias Löhr, Löhr JM, Kovacs P, Peter Kovacs, Matthias Blüher, Blüher M, Stumvoll M, Michael Stumvoll, Choudhuri G, Gourdas Choudhuri, Hegyi P, Péter Hegyi, te Morsche RH, René H M te Morsche, Drenth JPH, Joost P H Drenth, Kaspar Truninger, Truninger K, Macek M Jr, Milan Macek, Gero Puhl, Puhl G, Ulrike Witt, Witt U, Schmidt H, Hartmut Schmidt, Carsten Büning, Büning C, Johann Ockenga, Ockenga J, Andreas Kage, Kage A, David Alexander Groneberg, David A. Groneberg, Nickel R, Renate Nickel, Berg T, Thomas Berg, Bertram Wiedenmann, Wiedenmann B, Hans Bödeker, Bödeker H, Volker Keim, Keim V, Mössner J, Joachim Mössner, Teich N, Niels Teich, Sahin-Tóth M, Miklós Sahin-Tóth
Nature genetics · 2008 · vol. 40(1) , pp. 78–82 · doi:10.1038/ng.2007.44 · PMID:18059268 · PMC2650829
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This study is unrelated to endometriosis or adenomyosis, as it investigates how chymotrypsin C variants impairing activity or secretion predispose individuals to chronic pancreatitis by diminishing protective trypsin-degrading function.

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Abstract

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 21 of 2,804 (0.7%) controls (odds ratio (OR) = 4.6; confidence interval (CI) = 2.6-8.0; P = 1.3 x 10(-7)). A replication study identified these two variants in 10 of 348 (2.9%) individuals with alcoholic chronic pancreatitis but only 3 of 432 (0.7%) subjects with alcoholic liver disease (OR = 4.2; CI = 1.2-15.5; P = 0.02). CTRC variants were also found in 10 of 71 (14.1%) Indian subjects with tropical pancreatitis but only 1 of 84 (1.2%) healthy controls (OR = 13.6; CI = 1.7-109.2; P = 0.0028). Functional analysis of the CTRC variants showed impaired activity and/or reduced secretion. The results indicate that loss-of-function alterations in CTRC predispose to pancreatitis by diminishing its protective trypsin-degrading activity.

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MeSH descriptors

Chymotrypsin Pancreatitis, Chronic Cell Line Chymotrypsin Chymotrypsin Chymotrypsin Germany Humans Models, Molecular Molecular Sequence Data Mutation Pancreatitis, Alcoholic Pancreatitis, Alcoholic Pancreatitis, Chronic

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