SPINK1 mutations are associated with multiple phenotypes.
Mutations in the gene encoding for the pancreatic secretory trypsin inhibitor or serine protease inhibitor, Kazal type I (SPINK1) have been associated with different entities of chronic pancreatitis. While there is no doubt about the involvement of SPINK1 mutations in pancreatic inflammatory disease, much controversy has arisen regarding which alterations are associated with disease and what type of disease model should be applied when the SPINK1 gene is examined. This article presents the existing data on SPINK1 mutations in idiopathic chronic pancreatitis, familial pancreatitis, hereditary pancreatitis and tropical pancreatitis. The possible role of SPINK1 mutations and polymorphisms in pancreatic disease is discussed.
Pfützer
R H
RH
Department of Medicine II, University Hospital of Heidelberg at Mannheim, Germany.
Whitcomb
D C
DC
D006801:Humans; D009154:Mutation / Q000235:genetics*; D010195:Pancreatitis / Q000235:genetics; D010641:Phenotype; D014359:Trypsin Inhibitor, Kazal Pancreatic / Q000235:genetics*
D014359:Trypsin Inhibitor, Kazal Pancreatic