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
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Keywords

gene
polymorphism
IL-4
PRSS1
CFTR
SPINK1
TNF-α

Abstract

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.
https://doi.org/10.21802/gmj.2016.4.22
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References

Aghdassi AA, Weiss FU, Mayerle J, Lerch MM, Simon P. Genetic susceptibility factors for alcohol-induced chronic pancreatitis. Pancreatol. 2015;15(4):23–31. DOI: http://doi.org/10.1016/j.pan.2015.05.476

Aslam M, Avanthi S, Balle G, Ravikanth VV, Nabi Z, Reddy DN, et al. Pancreas divisum increases the risk of idiopathic recurrent acute pancreatitis in the presence of cathepsin B L26V polymorphism. Pancreatol. 2016;16(4):47 DOI: http://doi.org/10.1016/j.pan.2016.06.177

Garg P. Chronic pancreatitis in Asia-Oceania: Epidemiology and etiopathogenesis. Pancreatol. 2016;16(4):33–34. DOI: http://doi.org/10.1016/j.pan.2016.06.130

González JPM, Borrella CC, Mayoral R, Gudino LC, Hoghtower CM, Sarmiento RG. PPAR gamma pro12Ala polymorphism and type 2 diabetes: a study in a spanish cohort. J Genet Stud. 2014;2:1 DOI: http://doi.org/10.7243/2054-1112-2-1

Howes N, Lerch MM, Greenhalf W, Stoken DD, Elis I, Simon P, et al. European Registry of Hereditary Pancreatitis and Pancreatic Cancer (EUROPAC). Clinical and genetic characteristics of hereditary pancreatitis in Europe. Clin Gastroenterol Hepatol. 2004;2(3):252–61

Ivashchuk SI, Sydorchuk LP. Level of reactive response of peripheral blood neutrophil granulocytes of patients with acute pancreatitis depending on genes polymorphism of CFTR (delF508C), PRSS1 (R122H), IL-4 (C-590T) and TNF-α (G-308A). Pharma Innovation. 2016;5(8):96–100

Ivashchuk SI, Sydorchuk LP. Association of the genes IL-4 (C-590T), TNF-α (G-308A), PRSS1 (R122H) and CFTR (delF508C) with cytolysis syndrome activity in patients with acute edematous pancreatitis. Arch Balk Med Union. 2016;51(1):41–45

Ivashchuk SI, Sydorchuk LP. [Cholestatic syndrome activity in patients with acute edematous pancreatitis and genes IL-4 (C-590T), TNF-Α (G-308A), PRSS1 (R122H) and CFTR (DELF508C) polymorphism [Ukrainian]]. J Clin Exp Med Res. 2016;4(1):56–64

Kavutharapu S, Nagalla B, Abbagani V, Porika SK, Akka J, Nallari P, et al. Role of Proteases and Antiprotease in the Etiology of Chronic Pancreatitis. Saudi J Gastroenterol. 2012 Nov-Dec;18(6):364–8. DOI: http://doi.org/10.4103/1319-3767.103427

LaRusch J, Stello K, Yadav D, Whitcomb DC. CFTR, PRSS1, SPINK1 and CTRC mutations in the final NAPS2 cohort. Pancreatol. 2015 Jun;15(3):79 DOI: http://doi.org/10.1016/j.pan.2015.05.294

Lasztity N, Párniczky A, Mosztbacher D, Tóth A, Andorka C, Veres G, et al. Role of chymotrypsin C(CTRC) mutations in idiopathic reccurent acute and chronic pancreatitis in children. Pancreatol. 2015 June;15(3):76 DOI: http://doi.org/10.1016/j.pan.2015.05.284

Maksymyuk VV, Polyansky IYu, Tarabanchuk VV, Haruk LM. Some Genetic Aspects of Acute Pancreatitis. Galician Medical Journal. 2016;23(3) DOI: http://doi.org/10.21802/gmj.2016.3.51

Masamune A, Nakano E, Niihori T, Hamada S, Nagasaki M, Aoki Y, et al. Variants in the UBR1 gene are not associated with chronic pancreatitis in Japan. Pancreatol. 2016 Sep-Oct;16(5):814–8. DOI: http://doi.org/10.1016/j.pan.2016.06.662

The order of Ministry of Health of Ukraine of 2010. Pub.L #297 “About the confirmation of standards and clinical protocols of medical care providing in speciality “Surgery. (April , 2010). [Ukrainian]. Available from: http://www.moz.gov.ua/ua/portal/dn_20100402_297.html.

Mocanu SN, Blanco MR, Lopez JAG, Raventós VA, Viladrich AF, Poch FJS, et al. Idiopathic fibrosing pancreatitis. Pancreatol. 2013 Jul-Aug;13(4):e16 DOI: http://doi.org/10.1016/j.pan.2013.07.058

Moran R, Yahyapourjalaly N, Kamal A, Kumbhari V, Khashab M, Lennon AM, et al. Gene mutation testing for idiopathic pancreatitis: Predictors of diagnostic yield. Pancreatol. 2016 Jun;16(3):103 DOI: http://doi.org/10.1016/j.pan.2016.05.347

Nitsche C, Simon P, Weiss FU, Fluhr G, Weber E, Gärtner S, et al. Environmental Risk Factors for Chronic Pancreatitis and Pancreatic Cancer. Dig Dis. 2011;29(2):235–242. DOI: http://doi.org/10.1159/000323933

Pezzilli R, Andriulli A, Bassi C, Balzano G, Cantore M, Fave GD, et al. Exocrine pancreatic insufficiency in adults: a shared position statement of the Italian association for the study of the pancreas. World J Gastroenterol. 2013 Nov 28;19(44):7930–46. DOI: http://doi.org/10.3748/wjg.v19.i44.7930

Sydorchuk LP, Amosova KM. Influence of pharmacogenetically determined treatment on parameters of peripheral hemodynamics in patients with arterial hypertension. New Armenian Med J. 2011;5(2):35–43

Tonsi AF, Bacchion M, Crippa S, Malleo G, Bassi C. Acute pancreatitis at the beginning of the 21st century: The state of the art. World J Gastroenterol. 2009;15(24):2945–2959. DOI: http://doi.org/10.3748/wjg.15.2945

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