GENETIC DETERMINANTS OF PANCREATIC PATHOLOGY: A PILOT STUDY

Muraviov P. T., Shevchenko V. G., Sharapov I. V., Bondaretz D. A., Volkov V. B.

MEDICAL GENETICS

Scentific article

The aim of the study was to evaluate the prevalence of mutations in the PRSS1, SPINK1, CFTR, and TNF genes in patients with chronic pancreatitis and pancreatic cancer. The study was performed during 2015-2019 at the Regional Clinical Medical Center (Odessa). Sixty inpatients at the surgical department were examined, including 30 persons with a verified diagnosis of pancreatic cancer (C25.9) – group I and 30 with a diagnosis of chronic pancreatitis (K86.1) – group II. All patients were examined and treated according to current clinical protocols. Biological material for molecular genetic testing was obtained by scraping the buccal epithelium. Analysis of the polymorphic DNA loci of the PRSS1, SPINK1, CFTR, and TNF genes was performed by PCR. The ratio of «wild» and mutant alleles in patients with pancreatic cancer was for the PRSS1 gene 28/3 = 7,3: 1, for the SPINK1 gene – 29/12 = 2,4: 1, for the CFTR gene – 30/9 = 3,3 : 1, for TNF gene – 28/11 = 2.5: 1. For patients with chronic pancreatitis – PRSS1 30/1 gene, for SPINK1 gene – 29/6 = 4.8: 1, for CFTR gene – 30/4 = 7.5: 1, for TNF gene – 30/6 = 2.5: 1. It is shown that carriers of mutant alleles of the PRSS1 gene are 10% of the examined patients suffering from pancreatic cancer, SPINK1 gene – 40.0%, CFTR – 30.0%, TNF 36.7%. The frequency of detection of mutant alleles in patients of group I is twice higher than in group II. The investigated PRSS1, SPINK1, CFTR, and TNF genes are closely related functionally to SERPINB8, SERPINI1, SMPD3, NR4A2, CYLD, F2RL1, TNFRSF1A, TNFRSF1B, CEBPA, SLC9A3R1, RFFL, CTRDA, F5RS1, RFFL, CTRDA, FNRF, CTRC, DNA, HRS PARD3, F2RL3.

chronic pancreatitis, pancreatic cancer, medical genetics, diagnostics.

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«Bulletin of problems biology and medicine» Issue 4 Part 2 (154), 2019 year, 262-265 pages, index UDK 616.37-002.2:616.37-006.6:575.116

10.29254/2077-4214-2019-4-2-154-262-265