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 ; Reddy, D Nageshwar ; 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 (2013) Variants in CPA1 are strongly associated with early onset chronic pancreatitis Nature Genetics, 45 (10). pp. 1216-1220. ISSN 1061-4036
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Official URL: http://doi.org/10.1038/ng.2730
Related URL: http://dx.doi.org/10.1038/ng.2730
Abstract
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 in subjects aged ≤10 years (9.7%; OR = 84.0, P = 4.1 × 10−24). In the replication sets, defective CPA1 variants were present in 8/600 (1.3%) cases and 9/2,432 (0.4%) controls from Europe (P = 0.01), 5/230 (2.2%) cases and 0/264 controls from India (P = 0.02) and 5/247 (2.0%) cases and 0/341 controls from Japan (P = 0.013). The mechanism by which CPA1 variants confer increased pancreatitis risk may involve misfolding-induced endoplasmic reticulum stress rather than elevated trypsin activity, as is seen with other genetic risk factors for this disease.
| Item Type: | Article |
|---|---|
| Source: | Copyright of this article belongs to Springer Nature Limited. |
| Keywords: | Chronic pancreatitis. |
| ID Code: | 116931 |
| Deposited On: | 15 Apr 2021 05:35 |
| Last Modified: | 15 Apr 2021 05:35 |
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