and obesity, or rather with its indirect indicator – the
WC/OB ratio, while both dependencies were highly
reliable (p<0.0001). There was also a positive
correlation with the level of postprandial blood
glucose, but this trend did not reach the level of
reliability. The genotypic picture of the GNB3 gene
revealed the prevalence of the homozygous CC
genotype, regardless of the presence/absence of AH,
but the heterozygous CT genotype was predominant
among patients with AH (82.5%), while the
homozygous TT genotype occurred with almost the
same frequency in the compared groups (9.0% and
9.6%).
4 DISCUSSION
The study found that among the genetic markers
studied (AGT, CYP11B2, GNB3, ADD1 and NOS3),
only some of them demonstrate a significant
association with the development of arterial
hypertension (AH) and its complications, such as
myocardial hypertrophy and obesity. This is
consistent with the results of many international
studies that emphasize the role of genetic
predisposition in the pathogenesis of AH.
The AGT gene (angiotensin I converting enzyme
gene) and its polymorphisms, such as AGT C521T,
AGT T704C, have long attracted the attention of
researchers as key markers of AH risk. The works of
Curb et al. (2007) and Gagliardi et al. (2009) show
that variations in genes encoding components of the
renin-angiotensin-aldosterone system (RAAS)
significantly affect the development of hypertension,
including the difficulty in its treatment [8,9]. Our
results, which did not show statistically significant
differences in these markers in the sample with AH
and the control group, are generally consistent with
similar studies, where polymorphisms in these genes
do not always have a clear effect on the severity of
the disease. The CYP11B2 gene, encoding
aldosterone synthetase, is also of interest as a factor
influencing the development of hypertension. The
works of Kawarazaki and Fujita (2016), as well as
Wang et al. (2018) demonstrated an association of
mutations in this gene with increased sensitivity to
salt and excessive secretion of aldosterone, which in
turn contributes to an increase in blood pressure. Our
findings of the prevalence of the homozygous CC
genotype in the control group and the prevalence of
the heterozygous CT genotype in the AH group
confirm the results of similar studies. However, as in
some studies, for example, Yang et al. (2015), we did
not observe a significant correlation with the
development of chronic kidney disease, which may
be due to differences in the sample or a lower
incidence of kidney disease in the study group. The
GNB3 C825T gene has been actively studied in
recent years in the context of hypertension and its
complications. Studies by Cohen et al. (2005) and
Weiss et al. (2003) show that a mutation in this gene
may be associated with myocardial hypertrophy,
obesity, and diabetes. Our findings on the high
prevalence of the heterozygous CT genotype among
patients with AH are also confirmed by international
data, which may indicate the importance of this
marker for predicting the risk of developing
hypertension and its cardiovascular complications.
The ADD1 gene, involved in the regulation of
sodium-potassium adenosine triphosphatase
(Na+,K+-ATPase), showed a significant association
with salt-sensitive hypertension, which is consistent
with the opinion of other researchers. According to
the work of Sowers et al. (2013), mutations in this
gene can increase the body's sensitivity to excess salt,
which leads to an increase in blood pressure. The
results of our study, where the heterozygous GT
genotype was more common among patients with AH
and was associated with a family predisposition, are
fully consistent with these findings. Overall, our
findings confirming the role of genetic markers such
as AGT, CYP11B2, ADD1 and GNB3 in the
development of AH are consistent with international
data and highlight the need for further research to
identify the exact mechanisms of their action. At the
same time, the lack of significant association with
chronic kidney disease in the case of CYP11B2 and
AGT requires additional studies aimed at clarifying
their role in the pathogenesis of AH.
5 CONCLUSION
The prevalence of certain genotypes in the group of
patients with AH (e.g., homozygous AGTR1
A1166C, AGT C521T, and NOS3 G894T genotypes)
suggests that these markers do not have a significant
difference in frequency between the groups with and
without AH. However, the ADD1 G1378T gene
demonstrated an association with a familial
predisposition to AH, especially in the case of the
heterozygous GT genotype, which is associated with
malnutrition and salt sensitivity.
The results of the CYP11B2 C344T marker
analysis showed a positive correlation with an
indirect indicator of obesity (WC/HC), which
confirms its possible role in the regulation of
metabolism and the development of obesity.