Some Genetic Aspects of Acute Pancreatitis
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Keywords

acute pancreatitis
SPINK1 gene
polymorphism

Abstract

Clinical course of acute pancreatitis depends on the character of aggressive influence of activated aggressive enzymes on the pancreas and the surrounding tissues. An important role is played by genetically determined defence mechanisms aimed at preventing an intrapancreatic activation of enzymes.The objective of the research was to study the SPINK1 N34S polymorphism in patients with different forms of acute pancreatitis living in Chernivtsi region (Ukraine).Materials and methods. The study included 37 persons with different forms of acute pancreatitis. The patients were divided into 2 groups: Group I consisted of 17 patients with acute edematous pancreatitis; Group II included 20 patients with pancreatonecrosis. All the patients underwent complex instrumental and laboratory examination in accordance with the protocol of providing medical care to patients with acute pancreatitis. In addition, a genetic analysis was performed in order to study the SPINK1 N34S polymorphism.Results. The carriage of the favourable N-allele (45.9% and 51.4%) was more often observed among patients with different forms of acute pancreatitis and lower number of pathological SS-homozygotes (2.7%). The incidence of the biliary form of acute pancreatitis was not associated with a certain genotype of the SPINK1 N34S polymorphism. The non-biliary form of acute pancreatitis was insignificantly more common in carriers of the mutant S-allele: 29.7% (11) versus 18.9% (7) persons.Conclusions. The carriage of the unfavourable SS-genotype is a probable predisposing factor of disease initiation as well as potentiation of its further progression.
https://doi.org/10.21802/gmj.2016.3.51
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References

Boulling A, Witt H, Chandak G, et al. Assessing the pathological relevance of SPINK1 promoter variants. Eur J Hum Genet. 2011;19:1066-1073. http://dx.doi.org/10.1038/ejhg.2011.79

Tremblay K, Dubois-Bouchard C, Brisson D, Gaudet D. Association of CTRC and SPINK1 gene variants with recurrent hospitalizations for pancreatitis or acute abdominal pain in lipoprotein lipase deficiency. Front Genet. 2014. http://dx.doi.org/10.3389/fgene.2014.00090

Terlizzi V, De Gregorio F, Sepe A, et al. Brand new SPINK1 and CFTR mutations in a child with acute recurrent pancreatitis: a case report. Minerva Pediatr. 2013;65(6):669-672.

Kereszturi E, Kiraly O, Sahin-Toth M. Minigene analysis of intronic variants in common SPINK1 haplotypes associated with chronic pancreatitis. Gut. 2009;58(4):545-549. http://dx.doi.org/10.1136/gut.2008.164947

Sandhu B, Vitazka P, Ferreira-Gonzalez A, et al. Presence of SPINK-1 variant alters the course of chronic pancreatitis. J Gastroenterol Hepatol. 2011;26(6):965-969. http://dx.doi.org/10.1111/j.1440-1746.2011.06713.x

O'Reilly D, Witt H, Rahman S, et al. The SPINK1 N34S variant is associated with acute pancreatitis. Eur J Gastroenterol Hepatol. 2008;20:726-731. http://dx.doi.org/10.1097/MEG.0b013e3282f5728c

Waele D, Jan J. Acute pancreatitis. Current Opinion in Critical Care. 2014;20(2):189-195. http://dx.doi.org/10.1097/MCC.0000000000000068

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