期刊
CURRENT OPINION IN GASTROENTEROLOGY
卷 27, 期 5, 页码 467-474出版社
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1097/MOG.0b013e328349e2f8
关键词
CASR; CFTR; CTRC; cystic fibrosis; epistasis; pancreas; PRSS1; SPINK1; trypsin; trypsinogen
资金
- Frieda G. and Saul F. Shapira BRCA Cancer Research Program
- National Institutes of Health (NIH) [RO1 DK061451]
- National Center for Research Resources (NCRR), a component of the NIH [UL1 RR024153]
- NIH Roadmap for Medical Research
- NHI [T32 DK063922]
Purpose of review Chronic pancreatitis is a syndrome characterized by chronic inflammation of the pancreas, with variable pain, calcifications, necrosis, fatty replacement, fibrosis and scarring and other complications. Disease susceptibility, severity, progression and pain patterns vary widely and do not necessarily parallel one another. Much of the variability in susceptibility to recurrent acute and chronic pancreatitis is now clearly shown to be related to genetic differences between patients. This review highlights recent advances and future directions in genetic research. Recent findings The strongest risk factors are associated with genetic variations in PRSS1, SPINK1, CFTR, and to a lesser extent, CTRC and CASR. The latest research suggest that a single factor rarely causes pancreatitis, and the majority of patients with recurrent acute and chronic pancreatitis have multiple variants in a gene, or epistatic interactions between multiple genes, coupled with environmental stressors. Summary Pancreatic diseases have a strong genetic component. Rather than a classic Mendelian disorder, recurrent acute and chronic pancreatitis represents truly complex diseases with the interaction and synergism of multiple genetic and environmental factors. The future will require new predictive models to guide prevention and therapy.
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