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. 2022 Dec 11;23(24):15726.
doi: 10.3390/ijms232415726.

Pancreatic Secretory Trypsin Inhibitor (SPINK1) Gene Mutation in Patients with Acute Alcohol Pancreatitis (AAP) Compared to Healthy Controls and Heavy Alcohol Users without Pancreatitis

Anssi Nikkola  1   2 , Kari Antero Mäkelä  3 , Karl-Heinz Herzig  3   4   5 , Shivaprakash Jagalur Mutt  3 , Aishwarya Prasannan  3 , Hanna Seppänen  6 , Terho Lehtimäki  2   7   8 , Mika Kähönen  2   8   9 , Olli Raitakari  10   11   12 , Ilkka Seppälä  7 , Pihla Pakkanen  2   13 , Isto Nordback  2 , Juhani Sand  1 , Johanna Laukkarinen  1   2
Affiliations

Pancreatic Secretory Trypsin Inhibitor (SPINK1) Gene Mutation in Patients with Acute Alcohol Pancreatitis (AAP) Compared to Healthy Controls and Heavy Alcohol Users without Pancreatitis

Anssi Nikkola et al. Int J Mol Sci. .

Abstract

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.

Keywords: SPINK1; acute alcohol pancreatitis; alcoholics; genes; genetics; serine protease inhibitor Kazal-type 1.

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Conflict of interest statement

The authors declare no conflict of interest.

Figures

Figure 1
Figure 1
The prevalence and odds rations of SPINK1 (N34S) in patient and control groups.
See this image and copyright information in PMC

References

    1. Roberts S.E., Morrison-Rees S., John A., Williams J.G., Brown T.H., Samuel D.G. The incidence and aetiology of acute pancreatitis across Europe. Pancreatology. 2017;17:155–165. doi: 10.1016/j.pan.2017.01.005. - DOI - PubMed
    1. Frey C.F., Zhou H., Harvey D.J., White R.H. The incidence and case-fatality rates of acute biliary, alcoholic, and idiopathic pancreatitis in California, 1994–2001. Pancreas. 2006;33:336–344. doi: 10.1097/01.mpa.0000236727.16370.99. - DOI - PubMed
    1. Gullo L., Migliori M., Oláh A., Farkas G., Levy P., Arvanitakis C., Lankisch P., Beger H. Acute pancreatitis in five European countries: Etiology and mortality. Pancreas. 2002;24:223–227. doi: 10.1097/00006676-200204000-00003. - DOI - PubMed
    1. Yadav D., Lowenfels A.B. Trends in the epidemiology of the first attack of acute pancreatitis: A systematic review. Pancreas. 2006;33:323–330. doi: 10.1097/01.mpa.0000236733.31617.52. - DOI - PubMed
    1. Jaakkola M., Nordback I. Pancreatitis in Finland between 1970 and 1989. Gut. 1993;34:1255–1260. doi: 10.1136/gut.34.9.1255. - DOI - PMC - PubMed