University of Oulu

Nikkola A, Mäkelä KA, Herzig K-H, Mutt SJ, Prasannan A, Seppänen H, Lehtimäki T, Kähönen M, Raitakari O, Seppälä I, et al. Pancreatic Secretory Trypsin Inhibitor (SPINK1) Gene Mutation in Patients with Acute Alcohol Pancreatitis (AAP) Compared to Healthy Controls and Heavy Alcohol Users without Pancreatitis. International Journal of Molecular Sciences. 2022; 23(24):15726.

Pancreatic secretory trypsin inhibitor (SPINK1) gene mutation in patients with acute alcohol pancreatitis (AAP) compared to healthy controls and heavy alcohol users without pancreatitis

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Author: Nikkola, Anssi1,2; Mäkelä, Kari Antero3; Herzig, Karl-Heinz3,4,5;
Organizations: 1Department of Gastroenterology and Alimentary Tract Surgery, Tampere University Hospital, 33520 Tampere, Finland
2Faculty of Medicine and Health Technology, Tampere University, 33014 Tampere, Finland
3Research Unit of Biomedicine, Oulu University, 90220 Oulu, Finland
4Medical Research Center Oulu, Oulu University, Oulu University Hospital, 90220 Oulu, Finland
5Department of Pediatric Gastroenterology and Metabolic Diseases, Poznan University of Medical Sciences, 60-572 Poznan, Poland
6Department of Surgery, Helsinki University Hospital, 00260 Helsinki, Finland
7Fimlab Laboratories, Department of Clinical Chemistry, 33520 Tampere, Finland
8Finnish Cardiovascular Research Center, 33520 Tampere, Finland
9Department of Clinical Physiology, Tampere University Hospital, 33520 Tampere, Finland
10Centre for Population Health Research, University of Turku and Turku University Hospital, 20521 Turku, Finland
11Research Centre of Applied and Preventive Cardiovascular Medicine, University of Turku, 20014 Turku, Finland
12Department of Clinical Physiology and Nuclear Medicine, Turku University Hospital, 20521 Turku, Finland
13Department of Otorhinolaryngology-Head and Neck Surgery, Helsinki University Hospital, 00260 Helsinki, Finland
Format: article
Version: published version
Access: open
Online Access: PDF Full Text (PDF, 0.4 MB)
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Language: English
Published: Multidisciplinary Digital Publishing Institute, 2022
Publish Date: 2023-07-11


Only 3–5% of heavy alcohol users develop acute alcohol pancreatitis (AAP). This suggests that additional triggers are required to initiate the inflammatory process. Genetic susceptibility contributes to the development of AAP, and SPINK1 mutation is a documented risk factor. We investigated the prevalence of the SPINK1(N34S) mutation in patients with AAP compared to heavy alcohol users who had never suffered an episode of pancreatitis. Blood samples for the mutational analysis from patients with first episode (n = 60) and recurrent AAP (n = 43) and from heavy alcohol users without a history of AAP (n = 98) as well as from a control population (n = 1914) were obtained. SPINK1 mutation was found in 8.7% of the patients with AAP. The prevalence was significantly lower in healthy controls (3.4%, OR 2.72; 1.32–5.64) and very low in alcoholics without pancreatitis (1.0%, OR 9.29; 1.15–74.74). In a comparison adjusted for potential cofounders between AAP patients and alcoholics, SPINK1 was found to be an independent marker for AAP. The prevalence of the SPINK1 mutation is overrepresented in AAP patients and very low in alcoholics without pancreatitis. This finding may play a role in understanding the variable susceptibility to AAP found in heavy alcohol users.

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Series: International journal of molecular sciences
ISSN: 1661-6596
ISSN-E: 1422-0067
ISSN-L: 1661-6596
Volume: 23
Issue: 24
Article number: 15726
DOI: 10.3390/ijms232415726
Type of Publication: A1 Journal article – refereed
Field of Science: 3111 Biomedicine
Funding: This study was financially supported by the Competitive State Research Funding of the Expert Responsibility Area of Tampere University Hospital (9U028, 9V028, 9X024, 9AA039), and by the Sigrid Jusélius Foundation, Finland (SAT113).
Copyright information: © 2022 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (