scholarly journals Association of rs556621 Polymorphism with Development of Stroke in Patients with Cardiovascular Pathology

2019 ◽  
Vol 15 (5) ◽  
pp. 634-640
Author(s):  
S. Yu. Nikulina ◽  
V. A. Shulman ◽  
A. A. Chernova ◽  
S. V. Prokopenko ◽  
D. A. Nikulin ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Arterial Hypertension ◽  
Main Group ◽  
Lipid Lowering ◽  
Control Group ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Cardiovascular Pathology ◽  
Supraventricular Tachycardias ◽  
Brachiocephalic Arteries

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. 

scholarly journals Association of rs3025058 polymorphism with the development of stroke in patients with cardiovascular pathology

2020 ◽  
Vol 92 (12) ◽  
pp. 25-30
Author(s):  
S. Yu. Nikulina ◽  
V. A. Shulman ◽  
A. A. Chernova ◽  
S. V. Prokopenko ◽  
D. A. Nikulin ◽  
...  
Keyword(s):  
Risk Factors ◽  
Arterial Hypertension ◽  
Genetic Research ◽  
Main Group ◽  
Coagulation System ◽  
Control Group ◽  
Siberian Population ◽  
Single Nucleotide ◽  
Cardiovascular Pathology ◽  
Brachiocephalic Arteries

Aim.To study the association of single-nucleotide polymorphismrs3025058(5а/6а) with the development of stroke in patients of the East Siberian population with cardiovascular pathology and risk factors for its development. Materials and methods.The study involved 260 patients with stroke (age [57.0; 51.062.0]) and 272 patients of the control group (age [55.0; 51.062.0]). Among the patients who underwent stroke, 157 men and 103 women. The control group included 170 men and 102 women. The examination of the main group included: collection of complaints, anamnesis, clinical examination, computed tomography of the brain, electrocardiography, echocardioscopy, ultrasound duplex scanning of the extracranial brachiocephalic arteries, 24-hour monitoring of blood pressure and heart rate, analysis of the blood coagulation system. The patients of the main group had the following cardiovascular pathology and risk factors: arterial hypertension, paroxysmal supraventricular tachycardias, dyslipidemia, atherosclerosis of extracranial brachiocephalic arteries, disorders of the hemostasis system. The control group was examined within the framework of the international project HAPIEE. Molecular genetic research was carried out by real-time PCR. Statistical processing of the material was carried out using the Statistica for Windows 7.0, Excel and SPSS 22 application software. Results.The study established statistically significant associations between the 5a/5a genotype and the 5a allele and stroke in the general group of patients, as well as in the subgroup of men, subgroups of patients with extracranial brachiocephalic arteries atherosclerosis and dyslipidemia. In the subgroup of patients with cardiac arrhythmias, statistically significant results were obtained only for allele 5a, and in the subgroup of women with stroke, subgroups of patients with arterial hypertension and hypercoagulation, no significant associations ofrs3025058(5a/6a) polymorphism with stroke were found. Conclusion.Genotype 5a/5a and allele 5a of the single-nucleotide polymorphismrs3025058(5а/6а) increase the risk of stroke in individuals from the East Siberian population, including those in the presence of such risk factors as extracranial brachiocephalic arteries atherosclerosis and dyslipidemia.

scholarly journals THE PROGNOSTIC SIGNIFICANCE OF TET2 SINGLE NUCLEOTIDE POLYMORPHISM IN EGYPTIAN CHRONIC MYELOID LEUKEMIA

2020 ◽  
Vol 12 (1) ◽  
pp. e2020004
Author(s):  
Enas A Dammag ◽  
Nahla A.M. Hamed ◽  
Nabil A El Halawani ◽  
Heba S Kassem ◽  
Mona W Ayad
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Chronic Myeloid Leukemia ◽  
Myeloid Leukemia ◽  
Statistical Significance ◽  
Control Group ◽  
Spleen Size ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Prognostic Criteria ◽  
And Control

Background: Chronic myeloid leukemia (CML) is a myeloproliferative neoplasm. The pathogenesis of CML is based on the oncoprotein termed BCR‐ABL1. TET2 initiates DNA demethylation and is frequently mutated in hematological malignancies including CML.(1) The relation between TET2 acquisition and CML transformation and/or imitinab resistance is needed to be investigated. (2) Aim: To evaluate Ten Eleven Translocation 2 gene (TET2) single nucleotide polymorphism (SNP) (rs2454206, rs34402524, rs61744960) in chronic myeloid leukemia (CML) in relation to the disease prognostic criteria. Materials & Method: The study included 84 subjects; 54 CML in chronic phase and 30 healthy subjects as control group matched for age and sex. Routine investigations including CBC, bone marrow aspiration, biochemical investigations and molecular study were performed in CML patients to identify the disease stage. DNA extraction and SNP assay for TET2 gene polymorphism was done using (Thermo-Fisher predesigned SNP, USA) PCR prism 7500. Results: The mean age was 45.98±15.7 yrs in CML patients and   39.3±6.587 yrs in control group (p>0.05). TET2 SNP rs 34402524 was either heterozygous and homozygous in CML (48%,and 46.2%) but was mainly homozygous among control (80%) group (p=0.012). TET2 SNP rs 2454206 cases within CML (65.4%) and control (63.3%) group had wild patterns (p=0.046). TET2 SNP rs 61744960 showed a homozygous pattern among all groups (CML and control) showing no statistical significance (p=0.528). TET2 SNP in CML cases did not alter the prognostic criteria as no statistical significance was noted (p>0.05) yet, it was significantly related to spleen size in rs 34402524 where homozygous group had huger sizes and higher BCR-ABL1 levels 6 months after starting TKIs (p<0.05). Conclusions/Recommendation: TET2 SNP is a common in Egyptian chronic myeloid leukemia. TET2 SNP rs 3442524 was associated with huger spleen size and higher BCR-ABL1 levels after 6 months of starting TKIs suggesting disease progression.

scholarly journals Influence of a single-nucleotide polymorphism of AKT1 (rs2498796) and HEY2 (rs13328928) genes on the risk of endometrial cancer in women of the Republic of Tatarstan

2019 ◽  
Vol 100 (5) ◽  
pp. 769-773
Author(s):  
R I Gabidullina ◽  
F R Nukhbala ◽  
G A Smirnova ◽  
Yu I Orlova ◽  
A A Shakirov ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Endometrial Cancer ◽  
Statistical Significance ◽  
Control Group ◽  
Endometrioid Carcinoma ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Cancer Group ◽  
The Republic ◽  
Group 2

Aim. To analyze the prevalence of different polymorphisms of AKT1 gene (rs2498796) and HEY2 gene (rs13328928) and to determine the association of revealed polymorphisms with the risk of endometrioid carcinoma in women living in the Republic of Tatarstan. Methods. 161 female citizens of Tatarstan were enrolled. The study group included 60 patients with endometrial cancer (endometrioid carcinoma) and the control group enrolled 101 women without endometrial pathology. The age of the subjects ranged from 41 to 91 years. The single-nucleotide polymorphism of AKT1 gene (rs2498796) and HEY2 gene (rs13328928) was determined by real-time polymerase chain reaction. We ran a 2 test and evaluated the odds ratio. Results. The risk of endometrial cancer was higher in carriers of homozygous T/T genotype of AKT1 gene (rs2498796) without statistical significance (OR=1.61, 95% CI=0.614.21, p=0.62). Homozygous C/C genotype of HEY2 gene (rs13328928) with the mutant allele C was observed in endometrial cancer group with a frequency of 0.383 and 0.287 in the control group (2=1.70, p=0.43). The risk of endometrial cancer was higher in the group of homozygous C/C genotype without statistical significance (OR=1.54, 95% CI=0.793.03, p=0.43). Conclusion. Among 161 females citizens of the Republic of Tatarstan included into the study, the associations of the mutant alleles of AKT1 gene (rs2498796) and HEY2 gene (rs13328928) with the risk of endometrial cancer were not identified; the prevalence of alleles and genotypes was found to be comparable with the European one.

scholarly journals New Drugs and Emerging Therapeutic Targets in the Endothelin Signaling Pathway and Prospects for Personalized Precision Medicine

2018 ◽  
pp. S37-S54 ◽  
Author(s):  
A. P. DAVENPORT ◽  
R. E. KUC ◽  
C. SOUTHAN ◽  
J. J. MAGUIRE
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Pulmonary Arterial Hypertension ◽  
Arterial Hypertension ◽  
Precision Medicine ◽  
Small Molecule ◽  
Rapid Expansion ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Endothelin 1 ◽  
Pulmonary Arterial

During the last thirty years since the discovery of endothelin-1, the therapeutic strategy that has evolved in the clinic, mainly in the treatment of pulmonary arterial hypertension, is to block the action of the peptide either at the ETA subtype or both receptors using orally active small molecule antagonists. Recently, there has been a rapid expansion in research targeting ET receptors using chemical entities other than small molecules, particularly monoclonal antibody antagonists and selective peptide agonists and antagonists. While usually sacrificing oral bio-availability, these compounds have other therapeutic advantages with the potential to considerably expand drug targets in the endothelin pathway and extend treatment to other pathophysiological conditions. Where the small molecule approach has been retained, a novel strategy to combine two vasoconstrictor targets, the angiotensin AT1 receptor as well as the ETA receptor in the dual antagonist sparsentan has been developed. A second emerging strategy is to combine drugs that have two different targets, the ETA antagonist ambrisentan with the phosphodiesterase inhibitor tadalafil, to improve the treatment of pulmonary arterial hypertension. The solving of the crystal structure of the ETB receptor has the potential to identify allosteric binding sites for novel ligands. A further key advance is the experimental validation of a single nucleotide polymorphism that has genome wide significance in five vascular diseases and that significantly increases the amount of big endothelin-1 precursor in the plasma. This observation provides a rationale for testing this single nucleotide polymorphism to stratify patients for allocation to treatment with endothelin agents and highlights the potential to use personalized precision medicine in the endothelin field.

scholarly journals Association between Single Nucleotide Polymorphism of Vitamin D Receptor Gene FokI Polymorphism and Clinical Progress of Benign Prostatic Hyperplasia

2015 ◽  
Vol 2015 ◽  
pp. 1-5 ◽  
Author(s):  
Li Ruan ◽  
Jian-guo Zhu ◽  
Cong Pan ◽  
Xing Hua ◽  
Dong-bo Yuan ◽  
...  
Keyword(s):  
Vitamin D ◽  
Single Nucleotide Polymorphism ◽  
Benign Prostatic Hyperplasia ◽  
Vitamin D Receptor ◽  
Receptor Gene ◽  
Prostatic Hyperplasia ◽  
Control Group ◽  
Nucleotide Polymorphism ◽  
Vdr Gene ◽  
Single Nucleotide

Background.The aim of the study was to investigate the association between single nucleotide polymorphism (SNP) of vitamin D receptor (VDR) gene and clinical progress of benign prostatic hyperplasia (BPH) in Chinese men.Methods.The DNA was extracted from blood of 200 BPH patients with operation (progression group) and 200 patients without operation (control group), respectively. The genotypes of VDR gene FokI SNP represented by “F/f” were identified by PCR-restriction fragment length polymorphism. The odds ratio (OR) of having progression of BPH for having the genotype were calculated.Results. Our date indicated that the f alleles of the VDR gene FokI SNP associated with the progression of BPH (P=0.009).Conclusion. For the first time, our study demonstrated that VDR gene FokI SNP may be associated with the risk of BPH progress.

scholarly journals Association of STAT4 rs7582694 with susceptibility to systemic lupus erythematosus in population of Lorestan province, Iran

2018 ◽  
Vol 21 (1) ◽  
pp. 14-18 ◽  
Author(s):  
Gholam Reza Izadkhasti ◽  
Seyed Reza Kazeminezhad ◽  
Mohammad Reza Akhoond
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Single Nucleotide Polymorphism ◽  
Lupus Erythematosus ◽  
Control Group ◽  
Amplification Refractory Mutation System ◽  
Sample Population ◽  
Nucleotide Polymorphism ◽  
Systemic Lupus ◽  
Single Nucleotide ◽  
Increased Risk

Background and aims: Systemic lupus erythematosus (SLE) is a polygenic, inflammatory disease with a complex genetic inheritance that affects almost all the organs and systems of the host body. According to studies, STAT4 is a susceptible gene that can participate in the development of SLE in different populations. The aim of this study was to show the association between rs7582694 single nucleotide polymorphism with increased risk of SLE disease and two serological symptoms of the disease (i.e., anti-dsDNA and ANA) in the population residing in Lorestan province. Methods: The present study was conducted as a case control research. In this study, the prevalence of STAT4 gene G/C (rs7582694) single nucleotide polymorphism (SNP) in the patients with SLE (n=122) and in control group (n=127) was investigated among a sample population from Lorestan province. This SNP was genotyped based on using two methods including PCR-RFLP (polymerase chain reactionrestriction fragment length polymorphism) and tetra-primer ARMS-PCR (amplification-refractory mutation system) methods. Results: According to the obtained results, the frequency of minor allele C from this SNP (related allele with the disease) as compared to the major allele G (normal allele) was significantly higher in SLE patients than the controls. In addition, it showed a significant association (odds ratio [OR] = 1.623, 95% CI = 1.111-2.370, P = 0.012) with susceptibility to SLE. Moreover, a significant correlation (OR = 2.249, 95% CI = 1.031–4.904, P = 0.042) was found between the rs7582694 CC genotype and the risk of SLE in the population of Lorestan. Conclusion: Overall, based on the results it can be concluded that there was a relationship between the STAT4 gene G/C (rs7582694) SNP and the increased risk of SLE. However, no association was observed between the above-mentioned gene and anti-dsDNA or ANA that are some of the symptoms of SLE.

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
Keyword(s):  
Cardiovascular Disease ◽  
Single Nucleotide Polymorphism ◽  
Plasma Level ◽  
Clinical Laboratory ◽  
Enzyme Linked Immunosorbent Assay ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Cardiovascular Pathology ◽  
Allele Specific ◽  
Instrumental Methods

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.

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