Cichoż-Lach Halina, Michalak Małgorzata, Lis Emilia, Wojcierowski Jacek, Kowalik Agnieszka, Słomka Maria, Korolczuk Agnieszka
Department of Gastroenterology, Medical University of Lublin, Lublin, Poland.
Pol Arch Med Wewn. 2012;122(6):277-83. doi: 10.20452/pamw.1293. Epub 2012 Jun 6.
Recent studies have shown the key role of genetic factors in the development of chronic pancreatitis.
The aim of the study was to establish whether the frequency of the N34S mutation of serine protease inhibitor Kazal type 1 (SPINK1) gene differs between patients with alcoholic chronic pancreatitis, patients with nonalcoholic chronic pancreatitis, alcoholics without any digestive organ damage, and controls. We also sought to investigate whether the frequency of this mutation differs between women and men, and whether the mutation is associated with the age of patients at first diagnosis of chronic pancreatitis.
The study included 207 patients: 67 with alcoholic chronic pancreatitis, 35 with nonalcoholic chronic pancreatitis, 43 alcoholics with no damage to digestive organs, and 62 healthy volunteers who served as controls. The N34S mutation of the SPINK1 gene was detected with the polymerase chain reaction.
The N34S mutation of the SPINK1 gene occurred in 15 of 207 patients (7.25%). The mutation was most frequent in patients with alcoholic chronic pancreatitis (10 patients, 16.39%) and was more frequent compared with the control group (2 patients, 3.23%) (P = 0.047). There were no statistically significant differences between the other groups: patients with nonalcoholic chronic pancreatitis (2 patients, 5.71%), alcoholics without digestive organ damage (1 patient, 2.33%), and controls. The mutation was more frequent in men than in women (P = 0.043). There were no differences between patients with and without the mutation in terms of the age at first diagnosis of chronic pancreatitis (P >0.05).
The N34S mutation of the SPINK1 gene seems to be significantly correlated with alcoholic chronic pancreatitis.
近期研究表明遗传因素在慢性胰腺炎的发展中起关键作用。
本研究旨在确定1型 Kazal 型丝氨酸蛋白酶抑制剂（SPINK1）基因的N34S突变频率在酒精性慢性胰腺炎患者、非酒精性慢性胰腺炎患者、无任何消化器官损伤的酗酒者以及对照组之间是否存在差异。我们还试图研究该突变在男性和女性之间的频率是否不同，以及该突变是否与慢性胰腺炎首次诊断时患者的年龄相关。
本研究纳入207例患者：67例酒精性慢性胰腺炎患者、35例非酒精性慢性胰腺炎患者、43例无消化器官损伤的酗酒者以及62例作为对照的健康志愿者。采用聚合酶链反应检测SPINK1基因的N34S突变。
207例患者中有15例（7.25%）发生了SPINK1基因的N34S突变。该突变在酒精性慢性胰腺炎患者中最为常见（10例，16.39%），与对照组（2例，3.23%）相比更频繁（P = 0.047）。其他组之间无统计学显著差异：非酒精性慢性胰腺炎患者（2例，5.71%）、无消化器官损伤的酗酒者（1例，2.33%）和对照组。该突变在男性中比在女性中更频繁（P = 0.043）。在慢性胰腺炎首次诊断时的年龄方面，有突变和无突变的患者之间没有差异（P > 0.05）。
SPINK1基因的N34S突变似乎与酒精性慢性胰腺炎显著相关。
