Article
Variants in CPA1 are strongly associated with early onset chronic pancreatitis.
Nature genetics - 1 Oct 2013
Witt Heiko, Beer Sebastian, Rosendahl Jonas, Chen Jian-Min, Chandak Giriraj Ratan, Masamune Atsushi, Bence Melinda, Szmola Richárd, Oracz Grzegorz, Macek Milan, Bhatia Eesh, Steigenberger Sandra, Lasher Denise, Bühler Florence, Delaporte Catherine, Tebbing Johanna, Ludwig Maren, Pilsak Claudia, Saum Karolin, Bugert Peter, Masson Emmanuelle, Paliwal Sumit, Bhaskar Seema, Sobczynska-Tomaszewska Agnieszka, Bak Daniel, Balascak Ivan, Choudhuri Gourdas, Nageshwar Reddy D, Rao G Venkat, Thomas Varghese, Kume Kiyoshi, Nakano Eriko, Kakuta Yoichi, Shimosegawa Tooru, Durko Lukasz, Szabó András, Schnúr Andrea, Hegyi Péter, Rakonczay Zoltán, Pfützer Roland, Schneider Alexander, Groneberg David Alexander, Braun Markus, Schmidt Hartmut, Witt Ulrike, Friess Helmut, Algül Hana, Landt Olfert, Schuelke Markus, Krüger Renate, Wiedenmann Bertram, Schmidt Frank, Zimmer Klaus-Peter, Kovacs Peter, Stumvoll Michael, Blüher Matthias, Müller Thomas, Janecke Andreas, Teich Niels, Grützmann Robert, Schulz Hans-Ulrich, Mössner Joachim, Keim Volker, Löhr Matthias, Férec Claude, Sahin-Tóth Miklós
Abstract excerpt
Chronic pancreatitis is an inflammatory disorder of the pancreas. We analyzed CPA1, encoding carboxypeptidase A1, in subjects with nonalcoholic chronic pancreatitis (cases) and controls in a German discovery set and three replication sets. Functionally impaired variants were present in 29/944 (3.1%) German cases and 5/3,938 (0.1%) controls (odds ratio (OR) = 24.9, P = 1.5 × 10(-16)). The association was strongest...
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