DOI: https://doi.org/10.36347/sajb.2026.v14i10.003

Pages: 666-672

High blood pressure is a common disease in society. It is considered one of the diseases affected by genetic factors, so it plays a role in disturbances in the kidneys and ionic balance. This study focused on a key genetic factor, the SLC12A3 gene, specifically its coding region (exon 21), to assess the relationship between genetic variants and physiological changes in individuals with hypertension. The study involved conducting the necessary analyses to evaluate the physiological role of the study variables in patients, including potassium and magnesium levels, blood pH, renin, and aldosterone. Additionally, blood samples were used to amplify and sequence the genetic sequence, identifying variants. After identifying these variants in a sample of individuals, bioinformatics algorithms such as SIFT, Provean, and PolyPhen-2 were used to predict the role of these variants in the development of disorders. The results of this study demonstrated a positive correlation between most of the adverse variants and electrolyte imbalances, which can include decreased potassium and magnesium levels, as well as elevated blood pH. As for the non-harmful variants, a weaker correlation was observed with biophysical changes. However, in all cases, renin and aldosterone levels were elevated, reflecting the overactivity of the renin-angiotensin-aldosterone system. Therefore, the current study confirms that the identified alterations in exon 21 of the SLC12A3 gene, which is responsible for ionization in the kidneys, may affect normal kidney function, disrupt electrolyte balance, and contribute to disease severity. The analysis performed using bioinformatics algorithms reveals differences in physiological outcomes among hypertensive patients. Therefore, further studies with larger sample sizes are recommended to confirm these findings.