FORECASTING THE DEVELOPMENT OF ACUTE PANCREATITIS BASED ON MOLECULAR GENETIC STUDY

DOI: https://doi.org/10.29296/24999490-2021-02-05

A.K. Imaeva(1), L.F. Gallyamova(2), A.Kh. Nurgaliyeva(2), T.I. Mustafin(1), E.K. Khusnutdinova(2, 3) 1-Bashkir State Medical University, Lenina str., 3, Ufa, 450008, Russian Federation; 2-Bashkir State University, Zaki Validi str., 32, Ufa, 450076, Russian Federation; 3-Institute of biochemistry and genetics, Prospekt Oktyabrya, 71, Ufa, 450054, Russian Federation E-mail: alfia.imaeva.mail.ru

Introduction. Molecular genetic research methods suggest the development of certain forms of pancreatitis and its complications. Aim of the study. Identification of risk factors for the development of acute forms of pancreatitis based on molecular genetic studies, taking into account territorial, gender, and nationality. Material and methods. The most characteristic gene mutations in the loci responsible for the development of pathology in the pancreas were studied. For this, a molecular genetic analysis of DNA samples in patients with acute pancreatitis was carried out. The polymorphisms of the ADH1B (Arg47His), ALDH2 (Glu487Lys), PRSS1 (Arg122His), CFTR (Phe508del), and SPINK1 (Asn34Ser) genes were studied. Results. Analysis of these mutations in polymorphic variants of the SPINK1 and PRSS1 genes did not reveal significant differences for the development of acute pancreatitis in the group of patients with acute pancreatitis (AP) and healthy individuals. Analysis of the polymorphic variant Arg47His of the ADH1B gene revealed ethnic differences among patients with acute pancreatitis. Among residents of the Republic of Bashkortostan, the presence of the Arg/Arg genotype in Russians is a factor of increased risk of developing the disease. The presence of the Lys allele and the Glu/Lys genotype in the ALDH2 gene in female patients determines a tendency towards an increased risk of developing acute pancreatitis in residents of this region. The detection of the Phe508del mutation in the CFTR gene is associated with the development of destructive forms of pancreatitis. Conclusion. Identification of a risk group in a large region by identifying the indicated mutations in the ADH1B, ALDH2, and CFTR genes is important for preventing the development of acute, including destructive forms of pancreatitis.
Keywords: 
acute pancreatitis, genetic predisposition, gene, mutation
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