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Gastroenterology. 2013 Jun;144(6):1292-302. doi: 10.1053/j.gastro.2013.01.069.

Genetic risk factors for pancreatic disorders.

Author information

1
Division of Gastroenterology, Hepatology and Nutrition, Department of Medicine, University of Pittsburgh, Pittsburgh, Pennsylvania, USA. whitcomb@pitt.edu

Abstract

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.

PMID:
23622139
PMCID:
PMC3684061
DOI:
10.1053/j.gastro.2013.01.069
[Indexed for MEDLINE]
Free PMC Article

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