The N34S mutation of the SPINK1 gene and alcoholic chronic pancreatitis

Department of Gastroenterology, Medical University of Lublin, Lublin, Poland.
Polskie archiwum medycyny wewnȩtrznej (Impact Factor: 2.12). 06/2012; 122(6):277-83.
Source: PubMed


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.

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    ABSTRACT: The diagnostic options for chronic pancreatitis have evolved over recent years. The previous gold standard references for structural imaging and exocrine pancreatic function testing have both been supplanted and redesigned. Endoscopic retrograde pancreatography has now been overtaken by endoscopic ultrasound and magnetic resonance cholangiopancreatography, whilst the old technique for Dreiling tube pancreatic function testing has now been replaced by the endoscopic pancreatic function test. New advances in endoscopic ultrasound elastography have also extended the options for evaluating pancreatic masses to differentiate mass-forming chronic pancreatitis from malignancy. Genetic contribution to chronic pancreatitis is also now more widely recognized than ever before.
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