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

• Published in: Nature genetics Vol. 40; no. 1; pp. 78 - 82
• Main Authors: Rosendahl, Jonas, Witt, Heiko, Szmola, Richárd, Bhatia, Eesh, Ózsvári, Béla, Landt, Olfert, Schulz, Hans-Ulrich, Gress, Thomas M, Pfützer, Roland, Löhr, Matthias, Kovacs, Peter, Blüher, Matthias, Stumvoll, Michael, Choudhuri, Gourdas, Hegyi, Péter, te Morsche, René HM, Drenth, Joost PH, Truninger, Kaspar, Macek, Milan, Puhl, Gero, Witt, Ulrike, Schmidt, Hartmut, Büning, Carsten, Ockenga, Johann, Kage, Andreas, Groneberg, David Alexander, Nickel, Renate, Berg, Thomas, Wiedenmann, Bertram, Bödeker, Hans, Keim, Volker, Mössner, Joachim, Teich, Niels, Sahin-Tóth, Miklós
• Format: Journal Article
• Language: English
• Published: New York Nature Publishing Group US 01.01.2008; Nature Publishing Group
• Subjects: Agriculture; Animal Genetics and Genomics; Biological and medical sciences; Biomedical and Life Sciences; Biomedicine; Cancer Research; Cell Line; Cell physiology; Chymotrypsin; Chymotrypsin - chemistry; Chymotrypsin - genetics; Chymotrypsin - metabolism; Diagnosis; Fundamental and applied biological sciences. Psychology; Gastroenterology. Liver. Pancreas. Abdomen; Gene expression; Gene Function; Genetic aspects; Genetic variation; Genetics; Genetics of eukaryotes. Biological and molecular evolution; Germany; Human Genetics; Humans; Inflammatory diseases; letter; Liver. Biliary tract. Portal circulation. Exocrine pancreas; Medical sciences; Models, Molecular; Molecular and cellular biology; Molecular Sequence Data; Mutation; Other diseases. Semiology; Pancreas; Pancreatitis; Pancreatitis, Alcoholic - genetics; Pancreatitis, Chronic - genetics; Physiological aspects; Risk factors; Secretion. Exocytosis; Germany; India; Variant; Peptidases; Chronic; Serine endopeptidases; Chymotrypsin C; Enzyme; Secretion; Pancreatitis; Hydrolases; Digestive diseases; Pancreatic disease

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 chroni...