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Vol. 6, Issue 3 (2017)

Estimating the mode of inheritance of edematous pancreatitis based on genes CFTR (rs 113993960), IL-4 (rs 2243250), PRSS1 (rs 111033565), SPINK1 (rs ID6690) and TNF-α (rs 1800629) polymorphism

Author(s):
Serhiy Ivashchuk and Larysa Sydorchuk
Abstract:
The occurrence of mutations of genes such as cystic fibrosis gene (CFTR - cystic fibrosis transmembrane conductance regulator), cationic trypsinogen gene (PRSS1) and pancreatic secretory trypsin inhibitor (SPINK1), which influence the acute pancreatitis or chronic pancreatitis phenotype formation, substantially differs in different populations and ethnic groups, it also associates with hereditary (family) factor. The aim of the research was to estimate the mode of inheritance of edematous pancreatitis based on genes CFTR (rs 113993960), IL-4 (rs 2243250), PRSS1 (rs 111033565), SPINK1 (rs ID6690) and TNF-α (rs 1800629) polymorphism. The study involved 123 patients with acute and chronic pancreatitis exacerbation. The molecular genetic studies included the determining of polymorphic variants of genes IL-4 (C-590T), TNF-α (G-308A), PRSS1 (R122H), SPINK1 (N34S) and CFTR (delF508). The possible inheritance models of edematous pancreatitis were analysed using logistic regression. The analysis of the inheritance models of edematous pancreatitis taking into consideration polymorphic variants of gene IL-4 (rs 2243250) found that the recessive model has higher chances to manifest in the presence of the TT-genotype of gene IL-4, than the C-allele (OR=1.21; 95% CI: 0.34-5.66, p>0.05). TT-genotype of gene IL-4 increases chronic pancreatitis exacerbation risk, almost doubles it (OR=1.93; p>0.05), whereas the C-allele carrier makes the chances of this one credibly the lowest in the investigated population (OR=0.41, 95%CI OR: 0.16-1.03; p=0.046). The genes PRSS1 (365G>A), CFTR (delF508), SPINK1 (215G-A) and TNF-α (G-308A) polymorphism is not the risk factor of the appearance of edematous pancreatitis, neither of alcoholic nor of biliary origin. The analysis of the inheritance models of edematous pancreatitis, taking into consideration polymorphic variants of gene IL-4 (rs 2243250), found that the most effective is recessive model. The C-allele carrier is protective.
Pages: 217-222  |  770 Views  16 Downloads
How to cite this article:
Serhiy Ivashchuk, Larysa Sydorchuk. Estimating the mode of inheritance of edematous pancreatitis based on genes CFTR (rs 113993960), IL-4 (rs 2243250), PRSS1 (rs 111033565), SPINK1 (rs ID6690) and TNF-α (rs 1800629) polymorphism. Pharma Innovation 2017;6(3):217-222.
The Pharma Innovation Journal