Research of the rs11064153 variant of the SCNN1A gene in patients with arterial hypertension and in healthy people in the Trans-Baikal

The aim of the study was to evaluate the putative association of the rs11064153 variant of the SCNN1A sodium channel gene with arterial hypertension (AH) among patients suffering from AH and relatively healthy people in the Trans-Baikal Territory.

Design and methods. The present study included 106 patients with a confirmed diagnosis of AH. All participants were included in the study after signing informed consent. The control group consisted of 98 practically healthy people. The groups were comparable in age: the average age in the group with primary AH was 45 ± 9,7 years, in the control group— 42,5 ± 5,8 years. The number of men in group 1 was 73,6% (78/106), in group 2–55,1% (54/98) of the total number of cases (Chi-square = 7,62, df = 1, p < 0,005). Molecular genetics typing of the studied genes was carried out. SNPs of the sodium channel genes SCNN1A (rs11064153) were determined by real-time polymerase chain reaction. We have evaluated the subordination of the distribution of genotypes of samples to the Hardy-Weinberg equilibrium, χ² -test, and also estimated the odds ratio (OR).

Results. Carriage of the T/T genotype in the group of patients with AH was more frequent than in the control group (97,4% and 86,6%, respectively; χ² = 8,60, p = 0,01). Thus, carriage of the T/T genotype of the SCNN1A gene increased the likelihood of AH in patients (OR = 2,27, 95% confidence interval (CI) 1,29–4,01, p = 0,01). Among patients, the T allele was detected 1,5 times more often with a frequency of 0,78 compared with the group of healthy individuals — 0,22 (χ² = 7,28; p = 0,007). The C/C genotype was detected only in three patients from the AH group (2,8%) and in seven patients from the control group (7,1%). It was found that the C allele of the SCNN1А gene (rs11064153) 5 times less often than in the control group, and its frequency was 0,22 versus 0,34, respectively (χ² = 7,28, p = 0,007). The carriage of the C allele (C/C+T/C genotypes) is associated with a lower incidence in patients with AH (OR = 0.54; 95% CI 0,35–0,85, p = 0,007). In the samples examined by us, the carriage of the C allele reduced the likelihood of AH by 2,3 times.

Conclusions. We have found that the T allele and the T/T genotype of the rs11064153 variant of the SCNN 1A gene increase the likelihood of developing hypertension. Carrying allele C and the C/C SCNN1A genotype (rs11064153) reduces the likelihood of developing AH.

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