CTRC突变是否影响波兰人群中酒精性慢性胰腺炎的发生发展及其病程：初步研究。

Do CTRC mutations affect the development of alcoholic chronic pancreatitis and its course among Poles: Preliminary study.

作者信息

Cichoż-Lach Halina, Michalak-Wojnowska Małgorzata, Lis-Janczarek Emilia, Wojcierowski Jacek, Hydzik Marcin

机构信息

Department of Gastroenterology, Medical University of Lublin, Poland.

Department of Cancer Genetics, Medical University of Lublin, Poland.

出版信息

Adv Clin Exp Med. 2019 Mar;28(3):307-312. doi: 10.17219/acem/76130.

DOI:10.17219/acem/76130

PMID:30277669

Abstract

BACKGROUND

Genetic mutations are one of the etiological factors that predispose people to develop chronic pancreatitis.

OBJECTIVES

The aim of our study was to examine the effect of p.Trp55*, p.Arg254Trp and c.738_761del mutations in the chemotrypsin gene (CTRC) on the development of alcoholic chronic pancreatitis (ACP) in order to answer the questions whether these mutations vary between gender groups, whether they were related to the age when ACP was first diagnosed, and whether they affected the morphological changes in the pancreas and the course of ACP.

MATERIAL AND METHODS

The study included 124 patients with ACP, 52 with nonalcoholic pancreatitis and 52 controls. The p.Trp55*, c.738_761del and p.Arg254Trp mutations in the CTRC gene were tested by the polymerase chain reaction (PCR).

RESULTS

The c.738_761del and p.Arg254Trp mutations occurred in 3.07% and 1.31% of cases, respectively. None of the examined patients were found to have the p.Trp55* mutation. The frequency of detected mutations did not significantly differ between the study groups. The c.738_761del mutation was detected more frequently in women than in men. No significant differences were found in the age at ACP onset, morphological changes affecting the pancreas, or in the course of ACP between the patients with and without the 2 examined mutations. The c.738_761del mutation was significantly more frequent in the diabetic patients than in the non-diabetics. The patients with this mutation more frequently required surgery than those without the c.738_761del mutation.

CONCLUSIONS

No relationship between the c.738_761del and p.Arg254Trp mutations and the development of APC was found. The c.738_761del mutation was more frequent in females than in males. Neither mutation affected the patient's age at ACP onset or its course. In contrast to p.Arg254Trp, the c.738_761del mutation correlated with diabetes development and the need for surgery in the course of ACP.

摘要

背景

基因突变是使人易患慢性胰腺炎的病因之一。

目的

我们研究的目的是检测胰凝乳蛋白酶基因（CTRC）中的p.Trp55*、p.Arg254Trp和c.738_761del突变对酒精性慢性胰腺炎（ACP）发病的影响，以回答这些突变在不同性别组之间是否存在差异、是否与首次诊断为ACP的年龄有关，以及它们是否影响胰腺的形态变化和ACP的病程。

材料与方法

该研究纳入了124例ACP患者、52例非酒精性胰腺炎患者和52例对照。通过聚合酶链反应（PCR）检测CTRC基因中的p.Trp55*、c.738_761del和p.Arg254Trp突变。

结果

c.738_761del和p.Arg254Trp突变分别出现在3.07%和1.31%的病例中。未发现受检患者有p.Trp55*突变。各研究组中检测到的突变频率无显著差异。c.738_761del突变在女性中的检出频率高于男性。在有或无这两种检测到的突变的患者之间，ACP发病年龄、影响胰腺的形态变化或ACP病程均未发现显著差异。c.738_761del突变在糖尿病患者中的出现频率显著高于非糖尿病患者。与无c.738_761del突变的患者相比，有该突变的患者更频繁地需要手术。