November 12, 2014
Reference Type: Journal Article
Record Number: 5086Author: Mounzer, R. and Whitcomb, D. C.
Title: Genetics of acute and chronic pancreatitis
Journal: Curr Opin Gastroenterol
Short Title: Genetics of acute and chronic pancreatitis
Alternate Journal: Current opinion in gastroenterology
ISSN: 1531-7056 (Electronic)
Accession Number: 23872486
Keywords: Acute Disease
Genetic Predisposition to Disease
Genome-Wide Association Study/methods
Abstract: PURPOSE OF REVIEW: Acute pancreatitis, recurrent acute pancreatitis (RAP) and chronic pancreatitis are interrelated and progressive inflammatory disorders of the pancreas with highly variable and complex susceptibility, severity and outcomes. The role of genetics in acute pancreatitis, RAP and progression to chronic pancreatitis within a new framework is needed. RECENT FINDINGS: The first genome-wide association study in the pancreas has been published with genome-wide significance linked with noncoding variants at the PRSS1-PRSS2 locus on chromosome seven and the CLDN2 locus on the X chromosome. A new personalized medicine paradigm is being considered to facilitate organization of genetic and other susceptibility risk compared with the risk of disease progression or resolution and risk of complications. SUMMARY: A new framework for organizing multiple, complex data sets is emerging. The role of genetics in the context of other variables is important in understanding susceptibility to RAP and in the modification of disease severity and progression to chronic pancreatitis. Questions of when to order testing, what to order and how to use the data in real time remains an area for future research and development.