N-ACETYLTRANSFERASE 2 GENE POLYMORPHISM IN PATIENTS WITH EUTHYROID AND TOXIC GOITER IN THE IRKUTSK REGION

Background. N-acetyltransferase 2 is an enzyme involved in the detoxification of xenobiotics. The N-acetyltransferase 2 gene is polymorphic and causes variants of the enzyme structure, determining susceptibility to neoplasia, metabolic changes and diseases.

The aim. To study the features of the N-acetyltransferase 2 gene polymorphism in blood samples of patients operated on for euthyroid and toxic goiter, and its role in the development of complications of the disease and surgery.

Materials and methods. The study included patients living in the Irkutsk region who, during 2021–2023, underwent thyroidectomy for euthyroid and toxic goiter: 11 patients with diffuse toxic goiter, 12 with multinodular toxic goiter and 18 with multinodular euthyroid goiter. The control group is volunteers without thyroid pathology. Single nucleotide polymorphisms in the structural region of the N-acetyltransferase 2 gene (С282Т (rs1041983), T341C (rs1801280), С481Т (rs1799929), G590A (rs1799930), А803G (rs1208) и G857A (rs1799931)) were studied by the polymerase chain reaction method.

Results. The frequency of detection of the unchanged nucleotide sequence at position C282T is reduced (up to 45 % in diffuse toxic goiter and 50 % in multinodular toxic goiter) (p <0.0005). The frequency of detection of the T341C polymorphism in the homozygous state in multinodular toxic goiter was 33 % and was not detected in diffuse toxic goiter and in the control (p <0.0005). The frequency of neutropenia development against the background of thiamazole intake was 9 % and did not depend on the C282T polymorphism (p>0.95). In diffuse toxic goiter, a moderate negative correlation was noted between C282T and C481T, T341C (p <0.0005). At the same time, in multinodular toxic goiter, a positive relationship was found between C282T and G590A (p <0.0005).  

Conclusion. The study demonstrates the features of the N-acetyltransferase 2 gene polymorphism in blood samples of patients operated on for euthyroid and toxic goiter

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