Single nucleotide variant of the epithelial sodium channel gene SCNN1A (RS11064153) as a predictor of the development of arterial hypertension

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Relevance. Poor blood pressure control remains a leading cause of cardiovascular morbidity and mortality worldwide. Despite the fact that today information is actively accumulating about various genetic markers as predictors of many diseases, information about them in arterial hypertension is limited. Conducted genetic studies convincingly prove that genes affecting the function of sodium ion channels are involved in the pathogenesis of the development of arterial hypertension. In recent years, data have accumulated on the connection between the genetic marker rs11064153 of the SCN1A gene and hypertension.

Rational. Over the past decades, great progress has been made in understanding the molecular and biophysical mechanisms of hypertension. In recent years, data have accumulated on the connection between the genetic marker rs11064153 of the SCNN1A gene and hypertension.

The aim of the study. To identify the frequency of occurrence of the single-nucleotide variant rs11064153 in the SCNN1A gene and determine its effect on changes in the intracellular content of Na ions among patients with hypertension and healthy people in the Trans-Baikal Territory.

Material and methods. The presented study included 135 patients with arterial hypertension and 106 practically healthy people who served as controls. The groups were comparable by gender and age. Determination of SNVs of sodium channel genes was carried out by PCR. The intracellular sodium content was assessed by spectrofluorimetry. We assessed the subordination of the distribution of sample genotypes to the Hardy–Weinberg equilibrium,χ2, and also assessed the “odds ratio (OR)” indicator.

Results. In patients with hypertension who were carriers of the T/T genotype of the SCNN1A gene (rs11064153), higher values of the intracellular content of Na+ions were revealed than in the control group.

Conclusion. Thus, the study allows us to conclude that there is an association of the rs11064153 variant of the SCNN1A gene with changes in the intracellular content of Na+ions and, as a consequence, with the likelihood of developing hypertension.

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作者简介

Zoya Pokoeva

Chita State Medical Academy

编辑信件的主要联系方式.
Email: zoya_mihaleva@mail.ru
ORCID iD: 0000-0002-8712-0237

assistant at the Department of Normal Physiology named after B.I. Kuznik

俄罗斯联邦, 672000, Chita, Gorky str., 39А

Yurii Vitkovsky

Multidisciplinary clinic “MedLux”

Email: yuvitkovsky@rambler.ru
ORCID iD: 0000-0001-9244-1038

Dr. Sc. (Med.), Professor

俄罗斯联邦, 672039, Transbaikal Territory, Chita, Babushkina st., 97/1

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2. Distribution ofSCNN1Аgene variant (RS11064153) in patients with hypertension and in control

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3. Change in MFI (AU) of Na+ions of the SCNN1A gene variant (RS11064153) in the study groups Note:K – control group; AН – group of patients with arterial hypertension.

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