Analysis of polymorphic variants of CFTR (rs 113993960), IL-4 (rs 2243250), PRSS1 (rs 111033565), SPINK1 (rs ID 6690) and TNF-α (rs 1800629) Genes in Patients with Edematous Pancreatitis Living in Northern Bukovyna region

Sergei Ivashchuk, Larysa Sydorchuk


The occurrence of gene mutations affecting the formation of acute pancreatitis or exacerbation of chronic pancreatitis differs in different populations and ethnic groups.

The objective of the research was to study the incidence of CFTR (rs 113 993 960), IL-4 (rs 2243250), PRSS1 (rs 111 033 565), SPINK1 (rs ID 6690) and TNF-α (rs 1800629) gene mutations in Northern Bukovyna region and their dependence on etiological factor, sex and type of pancreatitis.

Material and methods. Determination of IL-4 (C-590T), TNF-α (G-308A), PRSS1 (R122H), SPINK1 (N34S) and CFTR (delF508) genes polymorphisms was performed in 123 patients with acute pancreatitis and the exacerbation of chronic pancreatitis and in 40 healthy individuals.

Results. The relative incidence of PRSS1, CFTR, SPINK1 and TNF-α genes polymorphisms in patients with acute pancreatitis and the exacerbation of chronic pancreatitis did not significantly differ. Carriers of CC genotype of IL- 4 gene were present among the patients with acute pancreatitis and in the control group by 22.39% and 21.76% more often than among the patients with the exacerbation of chronic pancreatitis. Acute alcohol-related pancreatitis was observed in men significantly more often than gallstone pancreatitis, namely by 53.58% in carriers of “wild” GG-genotype of PRSS1 gene, by 29.64% in carriers of CC genotype of IL-4 gene, by 42.40% in carriers of NN-genotype of CFTR gene, and by 38.74% in carriers of GG-genotype of SPINK1 gene, respectively.

Conclusions. The mutation of CFTR (rs 113 993 960), PRSS1 (rs 111 033 565), SPINK1 (rs ID6690) and TNF-α (rs1800629) gene in the homozygous state among the population of Northern Bukovyna was not detected. Acute alcohol-related pancreatitis was more often diagnosed in men in case of “wild” genotypes of PRSS1, CFTR and SPINK1 genes, whereas gallstone pancreatitis was more often diagnosed in women.


gene; polymorphism; IL-4; PRSS1; CFTR; SPINK1; TNF-α

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