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Review
. 2014 Nov 15;5(4):427-37.
doi: 10.4291/wjgp.v5.i4.427.

Genetics of acute and chronic pancreatitis: An update

Vv Ravi Kanth  1 , D Nageshwar Reddy  1
Affiliations
Review

Genetics of acute and chronic pancreatitis: An update

Vv Ravi Kanth et al. World J Gastrointest Pathophysiol. .

Abstract

Progress made in identifying the genetic susceptibility underlying acute and chronic pancreatitis has benefitted the clinicians in understanding the pathogenesis of the disease in a better way. The identification of mutations in cationic trypsinogen gene (PRSS1 gene; functional gain mutations) and serine protease inhibitor kazal type 1 (SPINK1 gene; functional loss mutations) and other potential susceptibility factors in genes that play an important role in the pancreatic secretory functions or response to inflammation during pancreatic injury has changed the current concepts and understanding of a complex multifactorial disease like pancreatitis. An individual's susceptibility to the disease is governed by genetic factors in combination with environmental factors. Candidate gene and genetic linkage studies have identified polymorphisms in cationic trypsinogen (PRSS1), SPINK1, cystic fibrosis trans-membrane conductance regulator (CFTR), Chymotrypsinogen C (CTRC), Cathepsin B (CTSB) and calcium sensing receptor (CASR). Individuals with polymorphisms in the mentioned genes and other as yet identified genes are at an enhanced risk for the disease. Recently, polymorphisms in genes other than those involved in "intra-pancreatic trypsin regulatory mechanism" namely Claudin-2 (CLDN2) and Carboxypeptidase A1 (CPA1) gene have also been identified for their association with pancreatitis. With ever growing number of studies trying to identify the genetic susceptibility in the form of single nucleotide polymorphisms, this review is an attempt to compile the available information on the topic.

Keywords: Acute pancreatitis; Chronic pancreatitis; Genetic susceptibility; Inflammation; Single nucleotide polymorphisms.

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References

    1. Brock C, Nielsen LM, Lelic D, Drewes AM. Pathophysiology of chronic pancreatitis. World J Gastroenterol. 2013;19:7231–7240. - PMC - PubMed
    1. Klöppel G, Detlefsen S, Feyerabend B. Fibrosis of the pancreas: the initial tissue damage and the resulting pattern. Virchows Arch. 2004;445:1–8. - PubMed
    1. Whitcomb DC. Value of genetic testing in the management of pancreatitis. Gut. 2004;53:1710–1717. - PMC - PubMed
    1. Yadav D, Whitcomb DC. The role of alcohol and smoking in pancreatitis. Nat Rev Gastroenterol Hepatol. 2010;7:131–145. - PubMed
    1. Whitcomb DC. Genetic aspects of pancreatitis. Annu Rev Med. 2010;61:413–424. - PubMed