The role of polymorphism of the phosphatidylethanolamine-N-methyltransferase gene rs12449964 in the risk of acute pancreatitis

Acute pancreatitis is considered an important issue in medicine. A special role in the regulation of lipid metabolism is played by the enzyme phosphatidylethanolamine N-methyltransferase, which catalyzes the process of methylation of phosphatidylethanolamine into phosphatidylcholine. These lipids are the main components of the mitochondrial membrane and the cell membrane, providing its fluid and plastic properties, and also participate in the transport of fats, fatty acids and cholesterol. In addition to its function in the synthesis of phosphatidylcholine, methylation of phosphatidylethanolamine promotes SAM turnover for the synthesis of cysteine and glutathione through transulfurization. PEMT is a gene encoding the enzyme phosphatidylethanolamine N-methyltransferase.

Objective. The purpose of this study is to determine the role of polymorphism (rs12449964) of the PEMT gene with the risk of acute pancreatitis in Russian residents of Central Russia.

Materials and methods. Whole blood samples were collected from 502 patients with acute pancreatitis and 513 healthy individuals. Genotyping of polymorphism (rs12449964) of the PEMT gene was performed using the PCR method of discriminating alleles using TaqMan probes.

Results. The C allele and the C/C genotype of the PEMT gene (rs12449964) were associated with the risk of acute
pancreatitis. The identified association is enhanced when patients use 1–1.5 g of fat per kg of body weight per day; with
BMI = 21-25.

Conclusion. Thus, disruption of the processes of methylation of phosphatidylethanolamine leads to the development of acute pancreatitis.