Loss of function mutations in the cationic trypsinogen gene (PRSS1) may act as a protective factor against pancreatitis

被引：40

作者：

Chen, JM

Le Maréchal, C

Lucas, D

Raguénès, O

Férec, C ^{[1
]}

机构：

[1] Univ Bretagne Occidentale, INSERM EMI 0115, Etablissement Francais Sang Bretagne, Ctr Hosp Univ Morvan, Brest, France

[2] Ctr Hosp Univ Morvan, Biochim Lab, Brest, France

来源：

MOLECULAR GENETICS AND METABOLISM | 2003年 / 79卷 / 01期

关键词：

alcoholism; denaturing high performance liquid; chromatography; gain of function; hereditary pancreatitis; human cationic trypsinogen gene; idiopathic chronic pancreatitis; loss of function; nonsense mutation; splicing mutation;

D O I：

10.1016/S1096-7192(03)00050-7

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Several genetic factors have been well known to predispose one to chronic pancreatitis (CP). However, little is known about the genetic factors that may provide a protective effect against the disease. Having found a nonsense mutation (c.111C > A; Y37X) and a splicing mutation (IVS2 + 1G > A) in the cationic trypsinogen gene (protease, serine, 1; PRSS1) in alcoholics without the development of CP, but not in alcoholics with CP and patients with hereditary or idiopathic CP, we propose that while "gain of function" mutations in the PRSS1 gene predispose one to pancreatitis, "loss of function" mutations in the gene may protect one against the disease. (C) 2003 Elsevier Science (USA). All rights reserved.

引用

页码：67 / 70

页数：4

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