title: Germline mutations and gene polymorphism associated with human pancreatitis.
abstract: A wide range of mutations and polymorphisms in genes that relate to pancreatic function seem to be involved in the development of pancreatitis. Some of these genetic alterations lead to disease phenotypes with unequivocal mendelian inheritance patterns, whereas others seem to act as modifier genes in conjunction with environ-mental or, as yet unidentified, genetic cofactors. This article reviews germline changes in the genes for trypsin, pancreatic secretory trypsin inhibitor, the cystic fibrosis conductance regulator, lipid metabolism proteins, inflammatory mediators for cytokines, and cathepsin B.
authors.affiliation: Department of Gastroenterology, Endocrinology, and Nutrition, Ernst-Moritz-Arndt Universität Greifswald, Friedrich-Loeffler-Strasse 23A, 17485 Greifswald, Germany.
authors.forename: F Ulrich
authors.initials: FU
authors.lastname: Weiss
authors.forename: Peter
authors.initials: P
authors.lastname: Simon
authors.forename: Julia
authors.initials: J
authors.lastname: Mayerle
authors.forename: Matthias
authors.initials: M
authors.lastname: Kraft
authors.forename: Markus M
authors.initials: MM
authors.lastname: Lerch
mesh_terms: D002352:Carrier Proteins / Q000235:genetics / Q000502:physiology; D002401:Cathepsin B / Q000235:genetics / Q000502:physiology; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics / Q000502:physiology; D020022:Genetic Predisposition to Disease; D018095:Germ-Line Mutation; D006801:Humans; D010195:Pancreatitis / Q000201:enzymology* / Q000235:genetics*; D017354:Point Mutation; D011110:Polymorphism, Genetic; D014357:Trypsin; D014359:Trypsin Inhibitor, Kazal Pancreatic; D014362:Trypsinogen / Q000235:genetics* / Q000502:physiology
chemical_list: D002352:Carrier Proteins; C486642:SPINK1 protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D014359:Trypsin Inhibitor, Kazal Pancreatic; D014362:Trypsinogen; C489303:PRSS1 protein, human; D014357:Trypsin; D002401:Cathepsin B