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PMID: 12408512 Published · ppublish English Journal Article Review

Genetic basis of chronic pancreatitis.

Scandinavian journal of gastroenterology. Supplement ·No. 236 ·2002-00-00 ·Pages 91-4

Jansen JB, te Morsche R, van Goor H, Drenth JP

Abstract

Pancreatitis has a proven genetic basis in a minority of patients. Review of the literature on genetics of pancreatitis. Ever since the discovery that in most patients with hereditary pancreatitis a mutation in the gene encoding for cationic trypsinogen (R122H) was found that results in a gain of trypsin function', many other mutations in the cationic trypsinogen gene, as well as in the gene encoding for pancreatic secretory trypsin inhibitor, have been found in patients with chronic pancreatitis. Furthermore, mutations in other genes, like the mucoviscoidosis-gene encoding for a chloride channel, and in genes encoding for enzymes involved in the metabolism of ethanol, have been linked to chronic pancreatitis. This article reviews the highlights that have been achieved in this field of pancreatic research. Recent data suggest that genetics may play a role in the pathogenesis of pancreatitis.

MeSH Terms
Chronic Disease Cystic Fibrosis/genetics Cystic Fibrosis Transmembrane Conductance Regulator/genetics Humans Mutation Pancreatitis/genetics Trypsin Trypsinogen/genetics
Chemicals
CFTR protein, human PRSS2 protein, human Cystic Fibrosis Transmembrane Conductance Regulator Trypsinogen Trypsin
Authors & Affiliations
4 authors, click to expand affiliations / ORCID
Jansen J B M J
Dept. of Gastroenterology, UMC St. Radboud, Nijmegen, The Netherlands. [email protected]
te Morsche R
van Goor H
Drenth J P H
Article Info
Journal
Scandinavian journal of gastroenterology. Supplement
Abbr.
Scand J Gastroenterol Suppl
ISSN
0085-5928
Published
2002-00-00
Pages
91-4
Language
English
Region
England
NLM ID
0437034
Subset
IM
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