scholarly journals Allelic variants of rs1800801 polymorphism in patients with stroke

2019 ◽  
Vol 10 (4) ◽  
pp. 29-33
Author(s):  
Svetlana Yu. Nikulina ◽  
Vladimir A. Shulman ◽  
Anna A. Chernova ◽  
Semen V. Prokopenko ◽  
Dmitrii A. Nikulin ◽  
...  
Keyword(s):  
Risk Factors ◽  
Molecular Genetic ◽  
Statistical Processing ◽  
Control Group ◽  
Siberian Population ◽  
Single Nucleotide ◽  
Cardiovascular Pathology ◽  
Genetic Examination ◽  
Supraventricular Tachycardias ◽  
Application Programs

Aim. To study the association of single nucleotide polymorphism (SNP) rs556621 (G>T) with the development of stroke in patients of the East Siberian population with cardiovascular pathology and risk factors. Material and methods. The study involved 260 patients with stroke (157 men and 103 women) and 272 patients of the control group (170 men and 102 women). The following cardiovascular pathology and risk factors were present in the patients of the main group: arterial hypertension, paroxysmal supraventricular tachycardias, dyslipidemia, atherosclerosis of the brachiocephalic arteries, disorders of the hemostatic system. All patients underwent clinical, instrumental and molecular genetic examination. Statistical processing of the material was carried out using the set of application programs Statistica for Windows 7.0, Excel and SPSS 22. Results. As a result of the study, no statistically significant associations of genotypes and alleles of the rs1800801 polymorphism (C>T) with stroke were found in any of the analyzed groups and subgroups. Conclusion. SNP rs1800801 (C>T) does not have a significant effect on the development of stroke in people of the East Siberian population, regardless of the preceding cardiovascular pathology and risk factors.

scholarly journals Association of rs3025058 polymorphism with the development of acute cerebrovascular event

2021 ◽  
Vol 42 (Supplement_1) ◽  
Author(s):  
A Chernova ◽  
S Nikulina ◽  
D Nikulin
Keyword(s):  
Risk Factors ◽  
Genetic Research ◽  
Statistical Processing ◽  
Main Group ◽  
Control Group ◽  
Cerebrovascular Event ◽  
Siberian Population ◽  
Cardiovascular Pathology ◽  
Daily Monitoring ◽  
Arterial Blood

Abstract Purpose To study SNP rs3025058 association (5a/6a) with development of Acute Cerebrovascular Event in the patients with cardiovascular pathology and risk factors of its development who are representatives of the east Siberian population. Material and methods 260 patients with Acute Cerebrovascular Event participated in a research (age [57.0; 51.0–62.0]) and 272 patients of control group (age [55.0; 51.0–62.0].). Among the patients who transferred Acute Cerebrovascular Event, 157 men and 103 women. The control group included 170 men and 102 women. Inspection of the main group included: collecting complaints, anamnesis, clinical examination, computer tomography of a brain, electrocardiography, echo, ultrasonic of arteries, daily monitoring of arterial blood pressure and cardiac rhythm, analysis of a coagulant system of blood. Patients of the main group had the following cardiovascular pathology and risk factors: arterial hypertension, supraventricular tachycardia, dislipidemiya, atherosclerosis brachiocephalic of arteries, disturbances of a system of a hemostasis. The control group is examined within the international HAPIEE project. The molecular and genetic research was conducted by PCR method in real time. Statistical processing of material was carried out with use of set of the Statistica for Windows 7.0, Excel and SPSS 22 application programs. Results In all analyzed groups and subgroups of patients statistically significant connection between a genotype of 5a/5a and an allele of 5a and in subgroup of women with Acute Cerebrovascular Event, subgroups of patients with AG and hypercoagulation of significant associations of polymorphism rs3025058 (5a/6a) with Acute Cerebrovascular Eventis not revealed. Conclusion A genotype 5a/5a and an allele 5a SNP rs3025058 (5a/6a) increase risk of development of an Acute Cerebrovascular Event in persons of the east Siberian population, including with such risk factors as atherosclerosis the brachiocephalic of arteries and a dislipidemiya. FUNDunding Acknowledgement Type of funding sources: None.

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 Association of rs11196288 polymorphism with the development of acute cerebrovascular event

2021 ◽  
Vol 42 (Supplement_1) ◽  
Author(s):  
A Chernova ◽  
S Nikulina ◽  
D Nikulin
Keyword(s):  
Risk Factors ◽  
Genetic Research ◽  
Statistical Processing ◽  
Main Group ◽  
Control Group ◽  
Cerebrovascular Event ◽  
Siberian Population ◽  
Cardiovascular Pathology ◽  
Daily Monitoring ◽  
Arterial Blood

Abstract Purpose To study SNP rs11196288 (A> G) with development of Acute Cerebrovascular Event in the patients with cardiovascular pathology and risk factors of its development who are representatives of the east Siberian population. Material and methods 260 patients with Acute Cerebrovascular Event participated in a research (age [57.0; 51.0–62.0]) and 272 patients of control group (age [55.0; 51.0–62.0].). Among the patients who transferred Acute Cerebrovascular Event, 157 men and 103 women. The control group included 170 men and 102 women. Inspection of the main group included: collecting complaints, anamnesis, clinical examination, computer tomography of a brain, electrocardiography, echo, ultrasonic of arteries, daily monitoring of arterial blood pressure and cardiac rhythm, analysis of a coagulant system of blood. Patients of the main group had the following cardiovascular pathology and risk factors: arterial hypertension, supraventricular tachycardia, dislipidemiya, atherosclerosis brachiocephalic of arteries, disturbances of a system of a hemostasis. The control group is examined within the international HAPIEE project. The molecular and genetic research was conducted by PCR method in real time. Statistical processing of material was carried out with use of set of the Statistica for Windows 7.0, Excel and SPSS 22 application programs. Results As a result of the conducted research in one of the analyzed groups and subgroups statistically significant associations of genotypes and alleles of polymorphism of rs11196288 were not revealed (A> G) with Acute Cerebrovascular Event. Conclusion SNP rs11196288 (A> G) has no significant effect on development of Acute Cerebrovascular Event in persons of the east Siberian population regardless of the previous cardiovascular pathology and risk factors. FUNDunding Acknowledgement Type of funding sources: None.

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 rs10507391 polymorphism with the development of acute cerebrovascular event

2021 ◽  
Vol 42 (Supplement_1) ◽  
Author(s):  
A Chernova ◽  
S Nikulina ◽  
D Nikulin
Keyword(s):  
Risk Factors ◽  
Arterial Hypertension ◽  
Genetic Research ◽  
Statistical Processing ◽  
Main Group ◽  
Control Group ◽  
Cerebrovascular Event ◽  
Cardiovascular Pathology ◽  
Arterial Blood ◽  
Increased Risk

Abstract Purpose To study SNP rs10507391 association (A> T) with development of Acute Cerebrovascular Event in the patients with cardiovascular pathology and risk factors of its development who are representatives of the east Siberian population. Material and methods 260 patients with Acute Cerebrovascular Event participated in a research (age [57.0; 51.0–62.0]) and 272 patients of control group (age [55.0; 51.0–62.0].). Among the patients who transferred Acute Cerebrovascular Event, 157 men and 103 women. The control group included 170 men and 102 women. Inspection of the main group included: collecting complaints, anamnesis, clinical examination, computer tomography of a brain, electrocardiography, echo, ultrasonic of arteries, daily monitoring of arterial blood pressure and cardiac rhythm, analysis of a coagulant system of blood. Patients of the main group had the following cardiovascular pathology and risk factors: arterial hypertension, supraventricular tachycardia, dislipidemiya, atherosclerosis brachiocephalic of arteries, disturbances of a system of a hemostasis. The control group is examined within the international HAPIEE project. The molecular and genetic research was conducted by PCR method in real time. Statistical processing of material was carried out with use of set of the Statistica for Windows 7.0, Excel and SPSS 22 application programs. Results When studying SNP rs10507391 association (A> T) connection between a rare genotype of a TT and an allele of T and the increased risk of Acute Cerebrovascular Event is established with development of Acute Cerebrovascular Event in all analyzed groups and subgroups of patients. Conclusion A genotype of a TT and an allele of T of SNP rs10507391 (A> T) increases risk of development of an acute disorder of cerebral circulation in patients regardless of the previous cardiovascular pathology and risk factors, including at patients with arterial hypertension, supraventricular tachyarrhythmias, atherosclerosis the brachiocephalic of arteries, disturbance of lipidic exchange and the system of a hemostasis. FUNDunding Acknowledgement Type of funding sources: None.

scholarly journals Association of 12204590 polymorphism with the development of acute cerebrovascular event

2021 ◽  
Vol 42 (Supplement_1) ◽  
Author(s):  
A Chernova ◽  
S Nikulina ◽  
D Nikulin
Keyword(s):  
Risk Factors ◽  
Arterial Hypertension ◽  
Genetic Research ◽  
Statistical Processing ◽  
Main Group ◽  
Control Group ◽  
Cerebrovascular Event ◽  
General Group ◽  
Cardiovascular Pathology ◽  
Arterial Blood

Abstract Purpose To study SNP rs12204590 (T > A) with development of Acute Cerebrovascular Event in the patients with cardiovascular pathology and risk factors of its development who are representatives of the east Siberian population. Material and methods 260 patients with Acute Cerebrovascular Event participated in a research (age [57.0; 51.0–62.0]) and 272 patients of control group (age [55.0; 51.0–62.0].). Among the patients who transferred Acute Cerebrovascular Event, 157 men and 103 women. The control group included 170 men and 102 women. Inspection of the main group included: collecting complaints, anamnesis, clinical examination, computer tomography of a brain, electrocardiography, echo, ultrasonic of arteries, daily monitoring of arterial blood pressure and cardiac rhythm, analysis of a coagulant system of blood. Patients of the main group had the following cardiovascular pathology and risk factors: arterial hypertension, supraventricular tachycardia, dislipidemiya, atherosclerosis brachiocephalic of arteries, disturbances of a system of a hemostasis. The control group is examined within the international HAPIEE project. The molecular and genetic research was conducted by PCR method in real time. Statistical processing of material was carried out with use of set of the Statistica for Windows 7.0, Excel and SPSS 22 application programs. Results The connection of the genotype of TA SNP rs12204590 (T > A) with the development of Acute Cerebrovascular Event in a general group of patients was confirmed, but no statistically significant associations were obtained when patients were divided into subgroups depending on cardiovascular pathology and risk factors. Conclusion The genotype of TA SNP rs12204590 (T > A), compared to the genotypes of TT and AA, reduces the risk of developing Acute Cerebrovascular Event, including in patients with arterial hypertension. The genotype of AA SNP rs12204590 (T > A) increases the risk of developing Acute Cerebrovascular Event in males. FUNDunding Acknowledgement Type of funding sources: None.

Phenotypes of professional bronchial asthma from the standpoint of spirometry

2021 ◽  
pp. 43-54
Author(s):  
Antonina G. Baykova ◽  
Marina Yuryevna Vostroknutova ◽  
Natalia A. Ostryakova ◽  
Tatyana Mikhailovna Kiryushina
Keyword(s):  
Comparative Analysis ◽  
Bronchial Asthma ◽  
Clinical Stage ◽  
Molecular Genetic ◽  
Control Group ◽  
Forced Exhalation ◽  
Choice Of Treatment ◽  
Genetic Examination

The aim of the study was to conduct a comparative analysis of spirometric indicators of respiration in various phenotypes of occupational bronchial asthma. Materials and methods. At the clinical stage of the work, a comprehensive clinical, radiological, spirographic, echocardiographic, immunological and molecular genetic examination of 170 patients of the main groups and 50 individuals of the control group was carried out. The results of the study. Dynamic determination of the speed indicators of forced exhalation in various phenotypes of occupational bronchial asthma can improve the diagnosis of obstructive disorders in this pathology, optimize the choice of treatment tactics, and predict the course of this pathology.

THE NEW GENETIC ASPECTS OF ATRIAL FIBRILLATION IN PERSONS OF THE RUSSIAN POPULATION

2020 ◽  
pp. 27-33
Author(s):  
Aksyutina N.V. ◽  
Shulman V.A. ◽  
Aldanova E.E. ◽  
Nikulina S.Yu. ◽  
Mordovskii V.S. ◽  
...  
Keyword(s):  
Heart Failure ◽  
Atrial Fibrillation ◽  
Chronic Heart Failure ◽  
Molecular Genetic ◽  
Genetic Research ◽  
Heart Rhythm ◽  
Control Group ◽  
Atrial Remodeling ◽  
Cardiovascular Pathology ◽  
Heart Rhythm Disorders

Atrial fibrillation (AF) is one of the most common and dangerous heart rhythm disorders. Lone AF is due to a genetic predisposition. Foreign studies have proven the association of rs2200733 polymorphism of chromosome 4q25 with AF. No such studies have been conducted in the Russian Federation. Purpose of the study: to determine the association of the rs2200733 polymorphism of chromosome 4q25 with the development of AF, and to exclude the possible connection of the studied polymorphic marker with concomitant cardiovascular pathology. A total of 247 patients with AF were examined (113 from lone AF, 134 from secondary). Control group - 182 healthy people. Behavior: ECG, EchoCG, Holter ECG monitoring, blood test for thyroid hormones, VEM, CAG, molecular genetic research. In the group of patients with AF, the TT genotype was detected in 12.95%, which is statistically significant more often than in the control group (4.94%), p<0.05. In the presence of a genotype with a rare T allele, the risk of developing AF increases by 1.5 times. The TT genotype was statistically significant more often in the subgroup of patients with isolated AF (17.70%) in comparison with the control group (4.94%), p<0.05. The risk of developing isolated AF in the presence of a genotype with a rare allele T is 1.8 times increased. Chronic heart failure, no statistically significant differences were found (p>0.05). In patients with the TT genotype, the mean LA size was 3.738 ± 0.494 cm, it was statistically significantly smaller than in patients with the CC genotype, which corresponded to 3.925 ± 0.629 cm, p<0.05; and than in individuals with a heterozygous CT genotype, its value in this subgroup is 4.018 ± 0.639 cm, p<0.05. Conclusions: Homozygous genotype for the rare TT allele and the T allele of the rs2200733 polymorphism of chromosome 4q25 are predictors of lone AF. The rs2200733 polymorphism has no association with any cardiovascular pathology, such as hypertension, ischemic heart disease and chronic heart failure. The TT genotype and the T allele of the rs2200733 polymorphism do not affect left atrial remodeling in patients with AF.

scholarly journals Clinical features of chronic bronchitis and genetic risk factors for the development of chronic obstructive pulmonary disease in adolescent smokers

2020 ◽  
Vol 73 (2) ◽  
pp. 250-253
Author(s):  
Svitlana I. Ilchenko ◽  
Anastasiia O. Fialkovska ◽  
Olena S. Koreniuk ◽  
Tatiana V. Yaroshevska ◽  
Nataliia M. Kramarenko ◽  
...  
Keyword(s):  
Risk Factors ◽  
Chronic Bronchitis ◽  
Clinical Features ◽  
Genetic Risk ◽  
Molecular Genetic ◽  
Genetic Risk Factors ◽  
Control Group ◽  
Chronic Obstructive ◽  
Childhood And Adolescence ◽  
Adolescent Smokers

The aim is to study the clinical features of the course of CB in adolescent smokers and to study the genetic risk factors for the development of COPD. Materials and methods: There were examined 40 adolescent smokers with CB, 30 never-smokers adolescents with CB and 37 healthy adolescents smokers (control group). The study included the collection of anamnesis, objective examination. calculation of the smoking index and the «pack/year», molecular genetic investigations. Results: It was proved that smoking leads to the development of chronic bronchitis as early as adolescence and affects its course, increasing the frequency and duration of exacerbations. We identified an association of the 2G/2G genotype of MMP1 gene with the development of chronic bronchitis in adolescent smokers. The TT genotype of CYP1A1 gene may be considered as a possible sustainability factor for the development of chronic bronchitis in adolescent smokers. Conclusions: The study of candidate genes for COPD in childhood and adolescence will facilitate the early detection of high-risk groups in the formation of this pathology, which will allow doctors to take the necessary preventive measures.

scholarly journals The role of single-nucleotide polymorphism rs10824026 of the SYNPO2L gene in the development of atrial fibrillation in a study in the East-Siberian population

2019 ◽  
Vol 10 (4) ◽  
pp. 34-38
Author(s):  
Kseniia Yu. Shishkova ◽  
Svetlana Yu. Nikulina ◽  
Vladimir A. Shulman ◽  
Anna A. Chernova ◽  
Vladimir N. Maksimov ◽  
...  
Keyword(s):  
Atrial Fibrillation ◽  
Single Nucleotide Polymorphism ◽  
National Standard ◽  
World Health ◽  
Control Group ◽  
Genome Wide Association Studies ◽  
Siberian Population ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Significant Difference

Background. Atrial fibrillation (AF) is the most common type of heart rhythm disturbance, leading to the development of lifethreatening conditions, such as cardio embolism, heart failure, and even sudden cardiac death. In recent years, the genetic aspects of AF have been actively discussed. The largest number of genetic predictors of AF was identified after a full genome-wide association studies (GWAS). Given that so far no studies of the association of rs10824026 polymorphism of chromosome 10q22 with the development of AF have been conducted in the Russian population, we conducted this clinical study. Aim. Checking the associations of the development of AF with the single-nucleotide polymorphism rs10824026 of the SYNPO2L gene in the East-Siberian population. Materials and methods. The study design was formed in accordance with the National Standard of the Russian Federation Good Clinical Practice, GOST P 52379-2005. The study uses design - “case-control”. The main group of patients - patients with known cardiac arrhythmias by the type of AF (n=106, average age 57.0±9 years, men 49.4%, women 50.6%), the group was formed using the criteria of the World Health Organization and the European Society of cardiologists. The control group (n=105, average age 57.0±9 years, men - 50.0%, women - 50.0%) was selected by age and gender from the DNA bank of international studies MONICA (Multinational MONItoring of trends and determinants in cardiovascular disease) under a joint agreement with the Research Institute of Therapy and preventive medicine - Novosibirsk. DNA was isolated by phenol-chloroform extraction. Among other things, among the research methods, routine laboratory methods were used; instrumental data; and invasive tactics such as CAG. Results. As a result of clinical genetic testing, it was found that the frequency of G/G polymorphism of the SYNPO2L gene in patients with AF shows a statistically significant difference.

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