Association between -94ins/del ATTG mutation in the NFKB1 gene and an early marker of cardio-vascular disease in individuals from the general population and individuals occupationally exposed to ionizing radiation
General Medicine, 2025, 27(5), 23-29.
G. Savova1, E. Zaharieva2, N. Aneva2, I. Ivanova2, R. Hristova2, R. Boteva2
1Medical Faculty, Trakia University ‒ Stara Zagora
2National Center of Radiobiology and Radiation Protection ‒ Sofia
Abstract. The rs28362491 polymorphism in the NFKB1 gene plays a significant role in regulating the inflammatory response and endothelial function, potentially influencing susceptibility to cardiovascular diseases. The ST2 protein is an important biomarker whose elevated levels are associated with poor prognosis in acute and chronic heart diseases, including exposure to ionizing radiation. The aim of the present study is to investigate the association between -94ins/ del ATTG polymorphism in the NFKB1 gene and the levels of the soluble fraction of ST2 protein (sST2), as an early clinical/preclinical marker for heart failure. The study included 69 individuals ‒ 24 from the general population and 45 professionally exposed to ionizing radiation. Genetic profiles of the participants were determined by real-time PCR and subsequent high resolution melting analysis to assess any association between carriage of the mutant allele and elevated sST2 levels. The results showed no significant correlation between the mutant genotype and sST2 levels, suggesting that the investigated polymorphism does not directly impact the expression of this protein in the studied groups.
Key words: cardiovascular disease, NFKB1 polymorphisms, suppression of tumorigenicity-2, radiation risk
Address for correspondence: Gergana Savova, e-mail: gergana.savova@trakia-uni.bg, ORCID: Г. Савова (0000-0003-2371-2636), E. Zaharieva (0000-0002-5421-1511), N. Akeva (0000-0002-4456-9835), I. Ivanova (0000-0002-5274-7128), R. Hristova (0000-0002-7455-3025), R. Boteva (0000-0003-4499-8223)