Genetics of pancreatitis.
Genetics of pancreatitis.
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DOI：
10.1097/mog.0b013e328349e2f8
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发表时间：
2011-09
影响因子：
2.5
通讯作者：
Whitcomb DC
中科院分区：
文献类型：
--
作者：
LaRusch J;Whitcomb DC
慢性胰腺炎是一种以胰腺慢性炎症为特征的综合征，伴有不同程度的疼痛、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，不一定相互平行。复发性急性和慢性胰腺炎易感性的大部分变异性现在清楚地表明与患者之间的遗传差异有关。本文综述了遗传学研究的最新进展和未来发展方向。最强的风险因素与PRSS 1，SPINK 1，CFTR的遗传变异相关，并且在较小程度上与CTRC和CASR相关。最新研究表明，单一因素很少导致胰腺炎，大多数复发性急性和慢性胰腺炎患者的基因存在多个变异，或多个基因之间的上位性相互作用，再加上环境应激因素。胰腺疾病有很强的遗传成分。复发性急性和慢性胰腺炎不是典型的孟德尔疾病，而是真正复杂的疾病，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。
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. 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. 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.