酒精性和非酒精性胰腺炎的遗传学。
Genetics of alcoholic and nonalcoholic pancreatitis.
机构信息
Division of Gastroenterology, Hepatology and Nutrition, Department of Medicine, Cell Biology and Physiology, and Human Genetics, University of Pittsburgh and UPMC, Pittsburgh, Pennsylvania 15213, USA.
出版信息
Curr Opin Gastroenterol. 2012 Sep;28(5):501-6. doi: 10.1097/MOG.0b013e328356e7f3.
PURPOSE OF REVIEW
To provide an expert review and expert perspective on important advances related to the genetics of acute and chronic pancreatitis.
RECENT FINDINGS
Provocative new studies highlight the interplay between genetic, developmental, and environmental factors. Key findings include the relationship between pancreas divisum and CFTR mutations, the role of trypsin in acute and recurrent acute pancreatitis, and the discovery of a pancreatitis modifier gene on the X chromosome that provides new clues to why the vast majority of patients with alcoholic pancreatitis are men.
SUMMARY
Pancreatic genetics is complex, linked to the multiplicative and modifying effects of multiple interacting genetic, structural, and environmental factors. Clinical interpretation will require disease modeling and simulation to understand the combined effect of risk factors that alone are neither sufficient nor necessary to cause disease, and to design treatment strategies that prevent the development of advanced chronic pancreatitis - which by definition is irreversible.
目的综述
提供有关急性和慢性胰腺炎遗传学重要进展的专家综述和专家观点。
最新发现
有争议的新研究强调了遗传、发育和环境因素之间的相互作用。主要发现包括胰胆管合流异常与 CFTR 突变之间的关系、胰蛋白酶在急性和复发性急性胰腺炎中的作用，以及在 X 染色体上发现的一个胰腺炎修饰基因，为为什么绝大多数酒精性胰腺炎患者都是男性提供了新的线索。
总结
胰腺遗传学是复杂的，与多种相互作用的遗传、结构和环境因素的倍增和修饰效应有关。临床解释将需要疾病建模和模拟，以了解单独的危险因素的综合影响，这些危险因素既不充分也不是导致疾病的必要条件，并设计预防进展性慢性胰腺炎的治疗策略-这一定义是不可逆转的。
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