CFTR, SPINK1, CTRC and PRSS1 variants in chronic pancreatitis: is the role of mutated CFTR overestimated?

Objective In chronic pancreatitis (CP), alterations in several genes have so far been described, but only small cohorts have been extensively investigated for all predisposing genes. Design 660 patients with idiopathic or hereditary CP and up to 1758 controls were enrolled. PRSS1, SPINK1 and CTRC we...

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Veröffentlicht in:	Gut 2013-04, Vol.62 (4), p.582-592
Hauptverfasser:	Rosendahl, Jonas, Landt, Olfert, Bernadova, Jana, Kovacs, Peter, Teich, Niels, Bödeker, Hans, Keim, Volker, Ruffert, Claudia, Mössner, Joachim, Kage, Andreas, Stumvoll, Michael, Groneberg, David, Krüger, Renate, Luck, Werner, Treiber, Matthias, Becker, Michael, Witt, Heiko
Format:	Artikel
Sprache:	eng
Schlagworte:	6-mercaptopurine Adolescent Adult Aged Alleles azathioprine Carrier Proteins - genetics Case-Control Studies CFTR Child Child, Preschool Chronic pancreatitis chronic ulcerative colitis Chymotrypsin - genetics Crohn's disease CTRC Cystic fibrosis Cystic Fibrosis Transmembrane Conductance Regulator - genetics Disease Female gene mutation general practice genetic polymorphisms Genetic Predisposition to Disease genetic testing Genetic Variation genetics Genotype Humans IBD IBD clinical Infant Male Middle Aged Mutation pancreas pancreatic disorders pancreatic enzymes pancreatitis Pancreatitis, Chronic - genetics Pathogenesis Patients Polymerase Chain Reaction PRSS1 Risk Factors Sequence Analysis, DNA SPINK1 Studies Trypsin - genetics Trypsin Inhibitor, Kazal Pancreatic
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Zusammenfassung:	Objective In chronic pancreatitis (CP), alterations in several genes have so far been described, but only small cohorts have been extensively investigated for all predisposing genes. Design 660 patients with idiopathic or hereditary CP and up to 1758 controls were enrolled. PRSS1, SPINK1 and CTRC were analysed by DNA sequencing, and cystic fibrosis transmembrane conductance regulator (CFTR) by melting curve analysis. Results Frequencies of CFTR variants p.R75Q, p.I148T, 5T-allele and p.E528E were comparable in patients and controls. We identified 103 CFTR variants, which represents a 2.7-fold risk increase (p
ISSN:	0017-5749 1468-3288
DOI:	10.1136/gutjnl-2011-300645