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Variants in CPA1 are strongly associated with early onset chronic pancreatitis.

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.
Nat Genet; 45(10): 1216-20, 2013 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-23955596
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.
Selo DaSilva