T594M mutation of the epithelial sodium channel beta subunit: No association with essential hypertension in Sudanese hypertensive


  • Huda A Fadlalmula Dept. of Epidemiology, Tropical Medicine Research Institute, National Centre for Research
  • Elsadig E Elmahdi University of Bahry, Faculty of Medicine, Khartoum, Sudan
  • Manal A Fadl AlNeelain University, Faculty of Science and Technology, Khartoum, Sudan


Background Hypertension is a multi-factorial disease, results from interplay between genetic and environmental factors. The epithelial sodium channel gene (SCNN1β) was known to regulate sodium absorption in the distal renal tubule. The T594M mutation of this gene results in an excess sodium reabsorption leading to high blood pressure. This study aimed to demonstrate a possible association between T594M C/T mutation of the SCNN1β (rs1799979) with essential hypertension in our population. Method 179 hypertensive and 100 normotensives were enrolled in this study. T594M mutation was detected by RFLP-PCR using NlaIII restriction enzyme. Results T594M mutation was found to be non-polymorphic.; both hypertensive and normotensives have the CC wild-type pattern and only one hypertensive carries the mutant heterozygote CT. A significant gender difference was observed with three folds of females increased risk (OR=2.79); 92% of the cases were above 40 years old, with significant difference when compared to the controls (p = 0.01); 41.3% and 26% of the hypertensives developed diabetes and hyperlipidaemia, respectively. Conclusion This study did not show any association between the T594M mutation of the SCNN1β gene with essential hypertension in the examined subjects, but also showed the rarity of the T594M mutation in our population.