The contribution of the SPINK1 c.194+2T > C mutation to the clinical course of idiopathic chronic pancreatitis in Chinese patients
The contribution of the SPINK1 c.194+2T > C mutation to the clinical course of idiopathic chronic pancreatitis in Chinese patients
复制标题
DOI：
10.1016/j.dld.2012.08.008
复制
发表时间：
2013-01-01
影响因子：
4.5
通讯作者：
Li, Zhaoshen
中科院分区：
文献类型：
--
作者：
Sun, Chang;Liao, Zhuan;Li, Zhaoshen
背景：最近的数据表明丝氨酸蛋白酶抑制因子1(SPINK1)基因突变与特发性慢性胰腺炎有关。然而，很少有研究关注丝氨酸蛋白酶抑制因子Kazal 1C.194+2T>；C突变。因此，我们的目标是研究丝氨酸蛋白酶抑制物Kazal 1型突变在中国特发性慢性胰腺炎患者中的患病率及其对临床特征的影响。方法：对118例中国特发性慢性胰腺炎患者进行回顾性队列研究，并进行基因检测以检测SPINK1突变。对照组为无胰腺炎的受试者。结果：44.9%的特发性慢性胰腺炎患者中有44.9%的患者存在丝氨酸蛋白酶抑制因子1C.194+2T>；C变异。特发性慢性胰腺炎患者发生糖尿病的频率(39.6%)高于无突变的患者(9.2%)。特发性慢性胰腺炎症状发作后发生糖尿病的时间显著受C.194+2T>；C突变(p<；0.001)的影响。此外，具有丝氨酸蛋白酶抑制因子1 C.194+2T>；C突变的患者的平均发病年龄(38.33+/-9.50)显著早于无该突变的患者(49.67+/-6.74)。结论：丝氨酸蛋白酶抑制因子Kazal 1 C.194+2T>；C突变的存在可能与特发性慢性胰腺炎有关，并可能使个体更早地发生胰腺糖尿病。(C)2012年《意大利胃肠病学杂志》爱思唯尔有限公司出版。保留所有权利。
Background: Recent data suggest that the serine protease inhibitor Kazal type 1 (SPINK1) gene mutation is associated with idiopathic chronic pancreatitis. However, few studies have focused on the serine protease inhibitor Kazal type 1 c.194 + 2T > C mutation. Therefore, our goal was to study the prevalence and impact of serine protease inhibitor Kazal type 1 mutations on the clinical profile of idiopathic chronic pancreatitis patients in China.Methods: A retrospective-cohort study of 118 Chinese patients with idiopathic chronic pancreatitis was performed, and genetic tests were carried out to detect SPINK1 mutations. Subjects without pancreatitis were used as controls. In total, 118 idiopathic chronic pancreatitis patients and 100 control subjects were evaluated.Results: The serine protease inhibitor Kazal type 1 c.194 + 2T > C variant was present in 44.9% of patients with idiopathic chronic pancreatitis. The frequency of diabetes in idiopathic chronic pancreatitis patients with the serine protease inhibitor Kazal type 1 c.194 + 2T > C mutation (39.6%) was higher than that of patients without the mutation (9.2%). The time to occurrence of diabetes mellitus after idiopathic chronic pancreatitis symptom onset is significantly influenced by the c.194 + 2T > C mutation (p < 0.001). In addition, the mean age of diabetes onset in patients with the serine protease inhibitor Kazal type 1 c.194 + 2T > C mutation (38.33 +/- 9.50) was significantly younger than that of patients without this mutation (49.67 +/- 6.74).Conclusions: The presence of the serine protease inhibitor Kazal type 1 c.194 + 2T > C mutation seems to be associated with idiopathic chronic pancreatitis and could predispose individuals to pancreatic diabetes onset at an earlier age. (C) 2012 Editrice Gastroenterologica Italiana S.r.l. Published by Elsevier Ltd. All rights reserved.