Genetic factors in pancreatitis.
A number of genetic mutations have recently been identified that appear to be important in the development of pancreatitis. Point mutations in the cationic trypsinogen gene are capable of initiating pancreatitis. These mutations also provide important insights into the pathophysiology of acute pancreatitis and into potential connections between acute and chronic pancreatitis. Mutations in the genes encoding for the pancreatic secretory trypsin inhibitor and the cystic fibrosis transmembrane conductance regulator more likely work in concert with other genes and environmental factors in affecting disease susceptibility. Although the subject so far has received only a limited amount of study, genetic polymorphisms in a wide range of genes relating to pancreatic function and to regulation of inflammation are likely to play major roles in determining each individual's susceptibility to developing pancreatitis, and its severity if it does develop.
Grendell
James H
JH
Division of Gastroenterology, Hepatology, and Nutrition, Winthrop University Hospital, 222 Station Plaza North, Suite 429, Mineola, NY 11501, USA. jgrendel@winthrop.org
D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics; D020022:Genetic Predisposition to Disease; D006801:Humans; D009154:Mutation / Q000235:genetics*; D010195:Pancreatitis / Q000235:genetics* / Q000503:physiopathology; D019683:Penetrance; D010446:Peptide Fragments / Q000235:genetics; D017354:Point Mutation / Q000235:genetics; D014357:Trypsin; D014359:Trypsin Inhibitor, Kazal Pancreatic / Q000235:genetics; D014362:Trypsinogen / Q000235:genetics
C505032:CFTR protein, human; D010446:Peptide Fragments; C064831:PRSS2 protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; C074197:cystic fibrosis transmembrane conductance regulator (505-511); D014359:Trypsin Inhibitor, Kazal Pancreatic; D014362:Trypsinogen; D014357:Trypsin