Aug 2026· Journal of modern medicine· Vol 14, pp. 799-804· 0 citations
TL;DR
In the study of the NOS3-G894T (rs1799983) polymorphism, the most favorable adaptation profile was observed in carriers of the GG genotype, and the presence of the T allele was associated with a decrease in the functional reserves of the cardiovascular system and a shift in the autonomic balance towards sympathetic activity.
Abstract
In recent years, among the genes associated with success in sports and adaptation to physical exertion, NOS3 (endothelial nitric oxide synthase gene) has garnered particular attention. Polymorphisms of the NOS3 gene affect nitric oxide synthesis, which in turn determines the state of endothelial function, vascular dilation, and hemodynamic adaptation processes. Objective. To evaluate the relationship between cardiovascular system adaptation indicators and NOS3 G894T (Glu298Asp, rs1799983) gene polymorphisms in adolescent football players. Research materials. The study included 100 adolescent football players who train regularly (AF group) and 60 adolescents who participate in sports as part of their school's physical education curriculum (SC group). Conclusion. In the study of the NOS3-G894T (rs1799983) polymorphism, the most favorable adaptation profile was observed in carriers of the GG genotype. They exhibited a lower resting heart rate, a higher incidence of physiological bradycardia, better parameters of autonomic heart rhythm regulation, more pronounced physiological myocardial remodeling, and optimal diastolic function values. Conversely, the presence of the T allele was associated with a decrease in the functional reserves of the cardiovascular system, a reduction in vagal nerve influence, and a shift in the autonomic balance towards sympathetic activity.
Recent research in sports genomics indicates that genes involved in regulating vascular tone, neurohumoral balance, energy metabolism, and myocardial structure significantly influence the adaptation of the cardiovascular system. ACE gene polymorphisms are one of the most studied and clinically significant genetic determinants of cardiovascular adaptation. The angiotensin-converting enzyme (ACE) gene encodes angiotensin II, a potent vasoconstrictor, and the key RAAS enzyme involved in regulating vascular tone, circulating blood volume, and myocardial remodeling. Objective. To assess the association between ECG parameters, which reflect cardiovascular system adaptation, and ACE I/D (rs4646994) gene polymorphisms in adolescent football players. Research materials included 100 adolescent football players who regularly engage in football (MG) and 60 adolescents who participate in sports during physical education classes as part of the school curriculum (CG). Conclusion. The effect of the ACE I/D (rs4646994) gene polymorphism on ECG parameters was less pronounced in the control group (which did not have regular physical exertion) compared to the main group, which demonstrates the modifying role of physical exertion in the realization of genetically determined features of cardiovascular adaptation.
A.A. Ruzieva· Journal of modern medicine· 0 citations
To optimize training, it is crucial to understand martial artists' predisposition to developing physical qualities, as well as their susceptibility to cardiovascular diseases such as hypertension. The aim of this study was to investigate the association of AGT and AGTR1 gene polymorphisms with the development of hypertension and physical fitness level (PFL) in martial artists from the city of Perm. The study sample included 430 individuals, including 312 martial artists and 118 schoolchildren who do not participate in sports (a control group). To investigate associations between AGT and AGTR1 allelic forms and hypertension, the subjects were divided into two groups: Group I, including subjects with normal blood pressure, and Group II, which included subjects with hypertension. qPCR was performed on DNA samples from subjects aged 10 to 16 years.The Pearson chi-square test (χ2) revealed a significant association between the AGT T/T genotype, the AGTR1 C/C genotype, and the development of arterial hypertension (χ2 = 102.4). An analysis of the relationship between martial arts and physical fitness level (PFL) revealed a tendency toward high levels of physical fitness across all disciplines (χ2 = 34.340). Spearman's rank correlation analysis revealed a positive association between the AGT T/T genotype (rs = 0.374) and the AGTR1 C/C genotype (rs = 0.390) with the level of physical condition in the subjects. Based on genetic analysis data obtained through rapid testing, individualized training programs at sports schools can be developed considering the specific athlete's genotype and physical fitness characteristics.
A. V. Sorokina· Вестник Пермского университе...· 0 citations
Ischemic heart disease is a multifactorial condition in which endothelial dysfunction and genetic predisposition play important roles. The present study assessed the Lys198Asn (G>T) polymorphism of the EDN1 gene, which encodes endothelin-1, one of the key regulators of vascular tone and endothelial function, and investigated its association with the risk of developing ischemic heart disease. The findings made it possible to assess the association of different EDN1 genotypes with the development of ischemic heart disease. The study of molecular genetic factors associated with endothelial dysfunction may contribute to improving early prediction of ischemic heart disease risk and the development of a personalized approach to disease prevention and treatment.Objective. To investigate the association between the Lys198Asn (G>T) polymorphism of the EDN1 gene, which is involved in the regulation of endothelial function and vascular tone, and the risk of developing ischemic heart disease.Materials and Methods. The study included 210 patients with ischemic heart disease who were divided into two groups. The first group comprised 103 patients with unstable angina, including progressive angina. The second group included 107 patients with stable effort angina of functional class I–IV. The control group for genetic analysis consisted of conditionally healthy individuals with no history of ischemic heart disease or other cardiovascular diseases and no family history of the specified diseases. The study employed general clinical, biochemical, instrumental, molecular genetic, and statistical methods.Results. The study revealed a statistically significant association between the Lys198Asn (G>T) polymorphism of the EDN1 gene and the risk of developing ischemic heart disease. Carriage of the minor Asn allele, particularly in the homozygous Asn/Asn genotype, was associated with an increased risk of ischemic heart disease. The heterozygous Lys/Asn genotype was also associated with an increased risk of disease development. In contrast, the major Lys allele and the homozygous Lys/Lys genotype were more frequent among conditionally healthy individuals and demonstrated a potentially protective association with the development of ischemic heart disease.Conclusion. The Lys198Asn (G>T) polymorphism of the EDN1 gene is associated with the risk of developing ischemic heart disease. Carriage of the minor Asn allele, as well as the Lys/Asn and Asn/Asn genotypes, is associated with increased susceptibility to the disease, whereas the Lys allele and Lys/Lys genotype may have a potentially protective effect. These findings suggest that the Lys198Asn (G>T) polymorphism of the EDN1 gene may be considered a potential molecular genetic marker of individual risk for ischemic heart disease.
D. A. Khamidov, U.Kh. Musashaykhоv, D. Nabieva et al.· Journal of modern medicine· 0 citations
The ANKK1 TaqIA polymorphism (rs1800497) has been linked to substance dependence, possibly through reduced striatal D2 receptor density and altered dopamine signaling. Beyond addiction, dopaminergic pathways are also implicated in motivation, reward, and athletic behavior. Personality further contributes to performance, as traits influence athletes’ engagement and preparation. The aim of this study was to examine: (1) the association between ANKK1 TaqIA rs1800497 and elite athletic status; (2) differences in personality traits measured by the NEO Five-Factor Inventory (NEO-FFI) between athletes and controls; and (3) interactions between the genotype, athletic status, and personality. The study included 141 competitive athletes competing nationally or internationally and 182 controls (total N = 323). Genotype analysis revealed significant differences between groups (p = 0.0439), with the C allele more frequent in athletes and the T allele in controls (p = 0.0158). Athletes scored higher on conscientiousness (p = 0.0001). Interaction analyses showed significant effects of genotype × athletic status for neuroticism (p = 0.0065), extraversion (p = 0.0403), and agreeableness (p = 0.0191). These findings not only provide a compelling rationale for further investigation into the role of ANKK1 in modulating personality traits relevant to athletic performance, but also suggest potential practical applications in the field of sports science—for example, in talent identification, a personalized training program design, and psychological support strategies aimed at optimizing athletes’ performance and well-being.
Milena Lachowicz, A. Suchanecka, K. Chmielowiec et al.· Journal of Human Kinetics· 0 citations
Cardiovascular diseases are the leading cause of morbidity and mortality worldwide, especially in low- and middle-income countries. To analyze the interaction between the rs693 (APOB gene) and rs1799983 (NOS3 gene) polymorphisms and leisure-time physical activity (LTPA) and cardiovascular risk (CVR) in adults. This population-based cross-sectional household study in Brazil evaluated CVR using the Framingham Risk Score (FRS), categorized as low (< 5%) or intermediate-to-high (≥ 5%). LTPA was self-reported via a VIGITEL-based questionnaire and categorized per current guidelines. The rs693 and rs1799983 polymorphisms were genotyped by real-time polymerase chain reaction with TaqMan® probes and classified as wild-type homozygous (TT and TT), heterozygous (CT and GT), and mutant homozygous (CC and GG), respectively. A combined genetic risk score was created, in which each genotype received a score from 0 to 2 according to the number of risk alleles. The values were summed, weighted by coefficients estimated in the sample, and subsequently categorized as low or high risk according to the median. Associations between genotypes, LTPA, and CVR were analyzed using univariate and multivariate logistic regression. Among 1,532 participants, 50.6% were male, 46.7% were aged 35–59 years, and 70.3% were physically inactive. Homozygosity for the variant allele was observed in 15.7% of participants for the rs693 polymorphism (CC) and 10.4% for the rs1799983 polymorphism (GG). Physically active individuals with the rs693 variant allele had a lower likelihood of elevated CVR (OR = 0.2; 95% CI: 0.1–0.7; p = 0.007) compared to wild-type homozygotes who were physically inactive. For rs1799983, wild-type homozygous and physically inactive individuals had a higher likelihood of elevated CVR (OR = 2.2; 95% CI: 1.2–3.9; p = 0.011) than physically active individuals with the same genotype. In crude analysis, individuals with high genetic risk but who were physically active had a lower likelihood of elevated CVR (OR = 0.5; 95% CI: 0.2–0.9; p = 0.025) than the low genetic risk and physically active group. Thus, leisure-time physical activity modified the association between rs693 and rs1799983 polymorphisms and CVR, indicating a significant interaction between genetic factors and lifestyle.
L. Fróis, Luiz Antônio Alves de Menezes-Júnior, Samara Silva de Moura et al.· Nutrire· 0 citations
Enzyme paraoxonase 1 (PON1) plays a protective role against atherosclerosis by preventing the oxidation of low-density lipoproteins (LDL). Polymorphisms in the PON1, particularly Q192R and L55M, have been shown to affect the enzyme activity and, consequently, the cardiovascular risk. The present study aimed to evaluate the association between PON1 haplotypes comprising the Q192R and L55M polymorphisms and the severity of coronary atherosclerosis in a Polish population. The retrospective study involved 282 individuals of both sexes, divided into two groups following coronarography. The study group included patients after PCI (percutaneous coronary intervention) with stent implantation or patients who qualified for CABG (coronary artery bypass graft), with stenoses of minimum 70% (n = 140), whereas the control group included those after coronarography and without essential lesions in coronary vessels (n = 142). The Q192R PON1 polymorphism was identified by PCR-RFLP. The haplotypes 192R-55L and 192R-55M have been shown to be statistically significantly associated with a higher risk of atherosclerosis that requires PCI/CABG (OR = 2.06, 95% CI: 1.29–3.28, p = 0.0022; OR = 1.77, 95% CI: 1.17–2.69, p = 0.007; respectively). Furthermore, the risk of atherosclerosis requiring PCI or CABG was 53% lower in patients with the 192Q-55L haplotype (OR = 0.47, 95% CI: 0.34–0.66, p = 0.000013). Haplotypes 192R-55L and 192R-55M may increase the risk of atherosclerosis requiring PCI/CABG, whereas the 192Q-55L haplotype may lower the risk.
Mariola Rychlik-Sych, M. Barańska, Michał Dudarewicz et al.· International Journal of Mol...· 0 citations