Document Detail

Genetic risk factors for pancreatic disorders.
MedLine Citation:
PMID:  23622139     Owner:  NLM     Status:  In-Data-Review    
A combination of genetic, environmental, and metabolic factors contribute to the development and recurrence of acute and chronic pancreatitis; information on all of these is required to manage patients effectively. For example, variants that affect regulation of the protease, serine (PRSS)1-PRSS2, and claudin (CLDN)2 loci, rather than their coding sequences, interact with other genetic and environmental factors to affect disease development. New strategies are needed to use these data and determine their contribution to pathogenesis, because these variants differ from previously studied, rare variants in exons (coding regions) of genes such as PRSS1, SPINK1, cystic fibrosis transmembrane conductance regulator (CFTR), chymotrypsin (CTR)C, and calcium-sensing receptor (CASR). Learning how various genetic factors affect pancreatic cells and systems could lead to etiology-based therapies rather than treatment of symptoms.
David C Whitcomb
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Gastroenterology     Volume:  144     ISSN:  1528-0012     ISO Abbreviation:  Gastroenterology     Publication Date:  2013 Jun 
Date Detail:
Created Date:  2013-04-29     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0374630     Medline TA:  Gastroenterology     Country:  United States    
Other Details:
Languages:  eng     Pagination:  1292-302     Citation Subset:  AIM; IM    
Copyright Information:
Copyright © 2013 AGA Institute. Published by Elsevier Inc. All rights reserved.
Division of Gastroenterology, Hepatology and Nutrition, Department of Medicine, Department of Cell Biology and Molecular Physiology, and Department of Human Genetics, University of Pittsburgh, Pittsburgh, Pennsylvania. Electronic address:
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