1932

Abstract

Chronic pancreatitis (CP) is a persistent inflammation of the pancreas. Over the past 12 years, genetic studies of hereditary, familial, and idiopathic forms of CP have made great progress in defining the disease pathogenesis. Identification of gain-of-function missense and copy number mutations in the cationic trypsinogen gene () and loss-of-function variants in both the pancreatic secretory trypsin inhibitor () and chymotrypsinogen C () genes has firmly established the pivotal role of prematurely activated trypsin within the pancreas in the etiology of CP. Loss-of-function variants in the cystic fibrosis transmembrane conductance regulator () and calcium-sensing receptor () genes also increase the risk of CP. Here, we review recent developments in this rapidly evolving field, highlight the importance of gene-gene and gene-environment interactions in causing the disease, and discuss the opportunities and challenges in identifying novel genetic factors that affect susceptibility/resistance to CP.

Keyword(s): CASRCFTRCTRCPRSS1PRSS2SPINK1
Loading

Article metrics loading...

/content/journals/10.1146/annurev-genom-082908-150009
2009-09-22
2024-03-28
Loading full text...

Full text loading...

/content/journals/10.1146/annurev-genom-082908-150009
Loading
/content/journals/10.1146/annurev-genom-082908-150009
Loading

Data & Media loading...

Supplemental Material

Supplementary Data

  • Article Type: Review Article
This is a required field
Please enter a valid email address
Approval was a Success
Invalid data
An Error Occurred
Approval was partially successful, following selected items could not be processed due to error