scholarly journals Phenotypic realization of single nucleotide polymorphism rs950880 of IL1RL1 gene in healthy inhabitants of Vinnytsia region.

2021 ◽  
Vol 25 (3) ◽  
pp. 364-368
Author(s):  
D. A. Bahrij ◽  
O. L. Starzhyns'ka ◽  
V. M. Zhebel

Annotation. Soluble growth stimulating factor (sST2) is a new biomarker that has recently been used quite successfully in cardiology. However, the possible genetic component of peptide production has not been sufficiently studied. The aim of the study was to assess the plasma level of sST2 and other aspects of the phenotypic implementation of single nucleotide polymorphism (SNP) rs950880 of the IL1RL1 gene in men without cardiovascular disease in the Podillia region, Ukraine. 70 men who met the criteria for inclusion/non-inclusion in the study were examined, general clinical, laboratory and instrumental methods were used. Genotyping of SNP rs950880 variants of the IL1RL1 gene was performed using an allele-specific polymerase chain reaction, the concentration of sST2 in blood was investigated using the method of enzyme-linked immunosorbent assay. Mathematical processing of the obtained results was performed using the standard statistical package Statistica 12.0. The mean concentration of sST2 in the plasma of men without signs of cardiovascular disease is 22.14±0.86 ng/ml. It was found that among men without cardiovascular diseases, residents of Podillia, the most common carriers of the C allele and variants of CC and CA SNP rs950880 of the IL1RL1 gene, carriers of variant AA are four times less common (p<0.05). It was determined that the main phenotypic feature of SNP rs950880 of the IL1RL1 gene is a higher plasma level of sST2 in CC homozygotes (23.34±1.22 ng/ml) compared with AA homozygotes (18.13±0.85 ng/ml, p<0,01). The obtained results will be the basis for further studies of the phenotypic implementation of the SNP rs950880 gene of the IL1RL1 gene in patients with cardiovascular pathology, in particular, with essential hypertension.

PLoS ONE ◽  
2013 ◽  
Vol 8 (8) ◽  
pp. e70335 ◽  
Author(s):  
Hoi Kin Wong ◽  
Kwok Leung Ong ◽  
Raymond Y. H. Leung ◽  
Tommy T. Cheung ◽  
Aimin Xu ◽  
...  

2019 ◽  
Vol 15 (5) ◽  
pp. 634-640
Author(s):  
S. Yu. Nikulina ◽  
V. A. Shulman ◽  
A. A. Chernova ◽  
S. V. Prokopenko ◽  
D. A. Nikulin ◽  
...  

Aim. To study the association of single nucleotide polymorphism rs556621 (G> T) with development of stroke in patients of the East Siberian population with cardiovascular pathology and risk factors.Material and methods. The study involved 260 patients (157 men and 103 women) with stroke (mean age 57.0 [51.0-62.0]) and 272 patients (170 men and 102 women) of the control group (mean age 55.0 [51.0-62.0]). The examination of the main group included: collection of complaints, anamnesis, clinical examination, computed tomography of the brain, electrocardiography, echocardioscopy, ultrasound duplex scanning of extracranial brachiocephalic arteries, daily blood pressure and heart rate monitoring, analysis of the blood coagulation system. The patients of the main group have arterial hypertension, paroxysmal supraventricular tachycardias, dyslipidemia, atherosclerosis of the brachiocephalic arteries, disorders of the hemostatic system. The control group was studied in the framework of the HAPIEE international project. Molecular genetic research was performed by real-time polymerase chain reaction.Results. There were no statistically significant differences in the frequencies of genotypes and single nucleotide polymorphism rs556621 alleles (G>T) in the subgroup of patients with stroke and those in the control group. The frequency of the rare TT genotype among patients with stroke was 13.3%±4.16, among healthy individuals – 8.8±3.37% (p=0.1). Gender differences when comparing the frequencies of genotypes and alleles were also not detected (p>0.05). The frequencies of the TT genotype were approximately the same in the subgroup of patients with arterial hypertension (13.1%±4.22) and in the control group (7.4±5.25%; p>0.05). No significant differences were observed in the frequencies of the rare genotype of the studied polymorphism in the subgroup of patients with supraventricular tachycardias (20.0±14.37%), hypercoagulability (15.9±7.64%) and the control group (8.8±3.37%), p>0.05. A statistically significant relationship was found between the rare genotype TT of single nucleotide polymorphism rs556621 (G>T) and the development of stroke in patients with dyslipidemia and atherosclerotic lesions of the coronary arteries (p=0.041; odds ratio 1.86, 95% confidence interval 1.02-3.41).Conclusion. The genotype of TTs of single nucleotide polymorphism rs556621 (G> T) increases the risk of developing stroke in patients with dyslipidemia and atherosclerosis of the brachiocephalic arteries compared with carriers of the GG and GT genotypes. The obtained data are recommended to be considered when prescribing lipid-lowering and antithrombotic therapy. 


2013 ◽  
Vol 29 (2) ◽  
pp. 342-347 ◽  
Author(s):  
G. M. McMahon ◽  
C. M. O'Seaghdha ◽  
S.-J. Hwang ◽  
J. B. Meigs ◽  
C. S. Fox

Author(s):  
Xuan Zhou ◽  
Julius van der Werf ◽  
Kristin Carson‐Chahhoud ◽  
Guiyan Ni ◽  
John McGrath ◽  
...  

Background Both genetic and nongenetic factors can predispose individuals to cardiovascular risk. Finding ways to alter these predispositions is important for cardiovascular disease prevention. Methods and Results We used a novel whole‐genome approach to estimate the genetic and nongenetic effects on—and hence their predispositions to—cardiovascular risk and determined whether they vary with respect to lifestyle factors such as physical activity, smoking, alcohol consumption, and dietary intake. We performed analyses on the ARIC (Atherosclerosis Risk in Communities) Study (N=6896–7180) and validated findings using the UKBB (UK Biobank, N=14 076–34 538). Lifestyle modulation was evident for many cardiovascular traits such as body mass index and resting heart rate. For example, alcohol consumption modulated both genetic and nongenetic effects on body mass index, whereas smoking modulated nongenetic effects on heart rate, pulse pressure, and white blood cell count. We also stratified individuals according to estimated genetic and nongenetic effects that are modulated by lifestyle factors and showed distinct phenotype–lifestyle relationships across the stratified groups. Finally, we showed that neglecting lifestyle modulations of cardiovascular traits would on average reduce single nucleotide polymorphism heritability estimates of these traits by a small yet significant amount, primarily owing to the overestimation of residual variance. Conclusions Lifestyle changes are relevant to cardiovascular disease prevention. Individual differences in the genetic and nongenetic effects that are modulated by lifestyle factors, as shown by the stratified group analyses, implies a need for personalized lifestyle interventions. In addition, single nucleotide polymorphism–based heritability of cardiovascular traits without accounting for lifestyle modulations could be underestimated.


Sign in / Sign up

Export Citation Format

Share Document