胰腺炎的遗传学。
Genetics of pancreatitis.
机构信息
Division of Gastroenterology, Hepatology and Nutrition, Department of Medicine, University of Pittsburgh, Pittsburgh, Pennsylvania, USA.
出版信息
Curr Opin Gastroenterol. 2011 Sep;27(5):467-74. doi: 10.1097/MOG.0b013e328349e2f8.
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.
目的综述
慢性胰腺炎是一种以胰腺慢性炎症为特征的综合征，伴有可变的疼痛、钙化、坏死、脂肪替代、纤维化和瘢痕形成等并发症。疾病易感性、严重程度、进展和疼痛模式差异很大，并不一定相互平行。现在很明显，复发性急性和慢性胰腺炎易感性的大部分差异与患者之间的遗传差异有关。这篇综述强调了遗传研究的最新进展和未来方向。
最新发现
最强的危险因素与 PRSS1、SPINK1、CFTR 中的遗传变异有关，在较小程度上与 CTRC 和 CASR 有关。最新研究表明，单一因素很少引起胰腺炎，大多数复发性急性和慢性胰腺炎患者的一个基因中存在多个变异体，或多个基因之间的上位性相互作用，加上环境应激源。
总结
胰腺疾病具有很强的遗传成分。复发性急性和慢性胰腺炎不是一种典型的孟德尔疾病，而是真正的复杂疾病，具有多种遗传和环境因素的相互作用和协同作用。未来将需要新的预测模型来指导预防和治疗。
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