Genetics of pancreatitis

被引：86

作者：

LaRusch, Jessica ^{[1
]}

Whitcomb, David C. ^{[1
,2
,3
]}

机构：

[1] Univ Pittsburgh, Dept Med, Div Gastroenterol Hepatol & Nutr, Pittsburgh, PA USA

[2] Univ Pittsburgh, Dept Cell Biol & Mol Physiol, Pittsburgh, PA USA

[3] Univ Pittsburgh, Dept Human Genet, Pittsburgh, PA USA

来源：

CURRENT OPINION IN GASTROENTEROLOGY | 2011年 / 27卷 / 05期

基金：

美国国家卫生研究院;

关键词：

CASR; CFTR; CTRC; cystic fibrosis; epistasis; pancreas; PRSS1; SPINK1; trypsin; trypsinogen; CALCIUM-SENSING-RECEPTOR; CYSTIC-FIBROSIS GENE; ALCOHOLIC CHRONIC-PANCREATITIS; RECURRENT ACUTE; HEREDITARY PANCREATITIS; MUTATIONS; SPINK1; POLYMORPHISMS; ASSOCIATION; RISK;

D O I：

10.1097/MOG.0b013e328349e2f8

中图分类号：

R57 [消化系及腹部疾病];

学科分类号：

摘要：

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.

引用

页码：467 / 474

页数：8

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