scholarly journals Association of ADRB1 gene polymorphism with dilated cardiomyopathy

2021 ◽  
Vol 10 (Supplement_1) ◽  
Author(s):  
A Chernova ◽  
SY Nikulina ◽  
OO Kuznecova

Abstract Funding Acknowledgements Type of funding sources: Public Institution(s). Main funding source(s): Prof. V.F. Voino-Yasenetsky Krasnoyarsk State Medical University Aim. To evaluate the Association of rs1801252 polymorphism of the ADRB1 gene with dilated idiopathic cardiomyopathy (DCMP) and myocardial dilation of ischemic origin (DMI). Subjects and methods. The study included patients with ICMP and MD IG in the number of 221 people. The average age of the subjects was in the range of 55.30 ± 9.69 years. We divided the patients into 2 groups: the first – patients diagnosed with idiopathic dilatation cardiomyopathy and the second-patients with myocardial dilatation of ichemic origin. The number of patients in the first group was 111, including 99 men (89.2%) and 12 women (10.8%). The average age of patients in this group is 51.73 ± 9.74 years, in men 51.00 ± 8.96 years, in women 57.75 ± 3.71 years. The second group included patients with myocardial dilatation of ischemic origin. Their number is 110 people, including 100 men (91.5%) and 10 women (8.5%). The average age of respondents is 58.68 ± 8.38 years, for men 58.29 ± 8.46 years, for women 62.90 ± 6.29 years. The control group included patients who had no manifestations of cardiovascular diseases. Their number is 121 people (average age 53.6 ± 4.8 years). The patients underwent laboratory and instrumental studies, as well as molecular and genetic studies of the A145G polymorphism of the ADRB1 gene (rs1801252 ). All patients underwent coronary angiography. Based on the anamnesis data and instrumental studies, those patients who could be said to have no risk factors for the development of dilatation of the heart cavities were identified in the first group. And those patients who were reliably diagnosed with CHD were in the second group, that is, dilatation of the heart cavities is due to a previous myocardial infarction, existing angina pectoris. Results. In the group with DCMP 70.3% of patients were carriers of the common homozygous A145A genotype, the heterozygous A145G genotype-27.0%, and the rare homozygous G145G genotype-2.7%. In the control group 71.9% of patients were identified as carriers of a homozygous genotype by a common allele, and 25.3% were carriers heterozygous genotype, and homozygous genotype for a rare allele – 2.7%. Statistical analysis showed no achievement of statistical significance level across any of the genotypes. In the group with DM IG, there was no association with the rs1801252 polymorphism of the ADRB1 gene. Conclusion. A statistically significant association of rs1801252 of the ADRB1 gene with DCMP was not found. The association of DM IG c rs1801252 could not be confirmed.

2021 ◽  
Vol 10 (Supplement_1) ◽  
Author(s):  
A Chernova ◽  
SY Nikulina ◽  
OO Kuznecova

Abstract Funding Acknowledgements Type of funding sources: Public Institution(s). Main funding source(s): Prof. V.F. Voino-Yasenetsky Krasnoyarsk State Medical University Aim. To evaluate the Association of rs231775 polymorphism of the CTLA4  gene with dilated idiopathic cardiomyopathy (DCMP) and myocardial dilation of ischemic origin (DMI). Subjects and methods. The study included patients with ICMP and DMI in the number of 221 people. The average age of the subjects was in the range of 55.30 ± 9.69 years. We divided the patients into 2 groups: the first – patients diagnosed with idiopathic dilatation cardiomyopathy and the second-patients with myocardial dilatation of ichemic origin. The number of patients in the first group was 111, including 99 men (89.2%) and 12 women (10.8%). The average age of patients in this group is 51.73 ± 9.74 years, in men 51.00 ± 8.96 years, in women 57.75 ± 3.71 years. The second group included patients with myocardial dilatation of ischemic origin. Their number is 110 people, including 100 men (91.5%) and 10 women (8.5%). The average age of respondents is 58.68 ± 8.38 years, for men 58.29 ± 8.46 years, for women 62.90 ± 6.29 years. The control group included patients who had no manifestations of cardiovascular diseases. Their number is 121 people (average age 53.6 ± 4.8 years). The patients underwent laboratory and instrumental studies, as well as molecular and genetic studies of the 49A/G polymorphism of the CTLA4  gene (rs231775). All patients underwent coronary angiography. Based on the anamnesis data and instrumental studies, those patients who could be said to have no risk factors for the development of dilatation of the heart cavities were identified in the first group. And those patients who were reliably diagnosed with CHD were in the second group, that is, dilatation of the heart cavities is due to a previous myocardial infarction, existing angina pectoris. Results. In the group with DCMP 34.2% of patients were carriers of the common homozygous 49AA genotype, the heterozygous 49AG genotype-48.6%, and the rare homozygous 49GG genotype-17.1%. In the control group 33.5% of patients were identified as carriers of a homozygous genotype by a common allele, and 49.3% were carriers heterozygous genotype, and homozygous genotype for a rare allele – 17.2%. The analysis revealed a statistically non significant increase in the frequency of carrying the homozygous AA genotype in patients with DCMP compared to the control group of the rs231775 polymorphism of the CTLA4  gene. In the group with DMI, there was no association with the rs231775 polymorphism of the CTLA4  gene. Conclusion. A statistically significant association of rs231775 of the CTLA4 gene with DCMP was not  found. The association of DMI c rs231775 could not be confirmed.


2021 ◽  
Vol 10 (Supplement_1) ◽  
Author(s):  
A Chernova ◽  
SY Nikulina ◽  
OO Kuznecova

Abstract Funding Acknowledgements Type of funding sources: Public Institution(s). Main funding source(s): Prof. V.F. Voino-Yasenetsky Krasnoyarsk State Medical University Aim. To evaluate the Association of rs1042713 polymorphism of the ADRB2 gene with dilated idiopathic cardiomyopathy (DCMP) and myocardial dilation of ischemic origin (DMI). Subjects and methods. The study included patients with ICMP and DMI in the number of 221 people. The average age of the subjects was in the range of 55.30 ± 9.69 years. We divided the patients into 2 groups: the first – patients diagnosed with idiopathic dilatation cardiomyopathy and the second-patients with myocardial dilatation of ichemic origin. The number of patients in the first group was 111, including 99 men (89.2%) and 12 women (10.8%). The average age of patients in this group is 51.73 ± 9.74 years, in men 51.00 ± 8.96 years, in women 57.75 ± 3.71 years. The second group included patients with myocardial dilatation of ischemic origin. Their number is 110 people, including 100 men (91.5%) and 10 women (8.5%). The average age of respondents is 58.68 ± 8.38 years, for men 58.29 ± 8.46 years, for women 62.90 ± 6.29 years. The control group included patients who had no manifestations of cardiovascular diseases. Their number is 121 people (average age 53.6 ± 4.8 years). The patients underwent laboratory and instrumental studies, as well as molecular and genetic studies of the 16 AG polymorphism of the ADRB2 gene (rs1042713). All patients underwent coronary angiography. Based on the anamnesis data and instrumental studies, those patients who could be said to have no risk factors for the development of dilatation of the heart cavities were identified in the first group. And those patients who were reliably diagnosed with CHD were in the second group, that is, dilatation of the heart cavities is due to a previous myocardial infarction, existing angina pectoris. Results. In the group with DCMP 10.8% of patients were carriers of the common homozygous 16AA genotype, the heterozygous 16AG genotype-48.6%, and the rare homozygous 16GG genotype-40.5%. In the control group 11.8% of patients were identified as carriers of a homozygous genotype by a common allele, and 47.5% were carriers heterozygous genotype, and homozygous genotype for a rare allele – 40.7%. The analysis non revealed a statistically significant decrease in the frequency of carrying the homozygous 16GG genotype in patients with DCMP compared to the control group of the rs1042713 polymorphism of the ADRB2 gene. In the group with DM IG, there was no association with the rs1042713 polymorphism of the ADRB2 gene. Conclusion. A statistically significant association of rs1042713 of the ADRB2 gene with DCMP was not found. The association of DMI c rs1042713 could not be confirmed.


2021 ◽  
Vol 10 (Supplement_1) ◽  
Author(s):  
A Chernova ◽  
SY Nikulina ◽  
OO Kuznecova

Abstract Funding Acknowledgements Type of funding sources: Public Institution(s). Main funding source(s): Prof. V.F. Voino-Yasenetsky Krasnoyarsk State Medical University Aim. To evaluate the Association of rs1805124 polymorphism of the SCN5A gene with dilated idiopathic cardiomyopathy (DCMP) and myocardial dilation of ischemic origin (DMI). Subjects and methods. The study included patients with ICMP and MD IG in the number of 221 people. The average age of the subjects was in the range of 55.30 ± 9.69 years. We divided the patients into 2 groups: the first – patients diagnosed with idiopathic dilatation cardiomyopathy and the second-patients with myocardial dilatation of ichemic origin. The number of patients in the first group was 111, including 99 men (89.2%) and 12 women (10.8%). The average age of patients in this group is 51.73 ± 9.74 years, in men 51.00 ± 8.96 years, in women 57.75 ± 3.71 years. The second group included patients with myocardial dilatation of ischemic origin. Their number is 110 people, including 100 men (91.5%) and 10 women (8.5%). The average age of respondents is 58.68 ± 8.38 years, for men 58.29 ± 8.46 years, for women 62.90 ± 6.29 years. The control group included patients who had no manifestations of cardiovascular diseases. Their number is 121 people (average age 53.6 ± 4.8 years). The patients underwent laboratory and instrumental studies, as well as molecular and genetic studies of the A/G polymorphism of the SCN5A gene (rs 1805124). All patients underwent coronary angiography. Based on the anamnesis data and instrumental studies, those patients who could be said to have no risk factors for the development of dilatation of the heart cavities were identified in the first group. And those patients who were reliably diagnosed with CHD were in the second group, that is, dilatation of the heart cavities is due to a previous myocardial infarction, existing angina pectoris. Results. In the group with DCMP 51.4% of patients were carriers of the common homozygous AA genotype, the heterozygous AG genotype-40.5%, and the rare homozygous GG genotype-8.1%. In the control group 63.3% of patients were identified as carriers of a homozygous genotype by a common allele, and 33.5% were carriers heterozygous genotype, and homozygous genotype for a rare allele – 3.2%. The analysis revealed a statistically significant decrease in the frequency of carrying the homozygous AA genotype in patients with DCMP compared to the control group of the rs1805124 polymorphism of the SCN5A gene. In the group with DM IG, there was no association with the rs1805124 polymorphism of the SCN5A gene. Conclusion. A statistically significant Association of rs1805124 of the SCN5A gene with DCMP was found. The Association of DM IG c rs1805124 could not be confirmed.


2021 ◽  
Vol 42 (Supplement_1) ◽  
Author(s):  
N M Efendieva ◽  
O P Shevchenko ◽  
A V Sozykine ◽  
A E Nikitin ◽  
A O Shevchenko ◽  
...  

Abstract Background Chronic infection by HIV evolves with a vascular inflammatory action causing endothelial dysfunction. The action of the virus as well as the side effects of antiretroviral drugs contributes to the progression of cardiovascular diseases. The study aimed to characterise the changes of the structure of the coronary wall and the thickening of the intima by Optical Coherence Tomography in HIV-infected patients with or without symptoms of coronary heart disease. Methods Fifty-two HIV-infected individuals had a mean age of 49.8±11.4 years. There were 75% men, diabetes 30,8%, hypertension 30,8%, smokers 34,62% and 7,7% with cholesterol levels ≥99 mg/dl. Control group included 120 non-HIV-infected controls with coronary heart disease. All the participants from HIV-group receive ART, 100% of participants had plasma HIV RNA <20 copies/mL and 78,85% of them have symptoms of coronary artery disease. Results The average diffuse homogeneous thickening of the intima in patients with HIV was 0.67±0.24 mm, and 0.34±0.18 mm in control group, with normal values not exceeding 0.05 mm. There was impaired three-layer structure of coronary wall in 90,4% (47 of 52) HIV-infected participants and in 60% of control group, atherosclerotic plaque had only 34,62% of HIV group. All HIV-infected patients receive ART more than 5 years. Conclusion The coronary angiography and OCT demonstratedthat the inflammatory process resulting from HIV-infection or HAART may be relevant in the changes of coronary arteries in HIV-positive patients. The changes are predominantly represented by thickening of the intima, impaired three-layer structure of arterial wall and accelerating atherosclerosis. FUNDunding Acknowledgement Type of funding sources: Public Institution(s). Main funding source(s): Russian National Research Medical University named after N.I. PirogovCentral Clinical Hospital of Russian Academy of Science, Moscow, Russia


2021 ◽  
Vol 12 (1) ◽  
pp. 28-33
Author(s):  
Svetlana Y. Nikulina ◽  
Оksana O. Kuznetsova ◽  
Anna A. Chernova ◽  
Gennadiy V. Matyushin ◽  
Anna A. Gurazheva ◽  
...  

Aim. To study the association of the rs1042713 polymorphism of the ADRB2 gene with cardiomyopathies of various origins. Material and methods. The study included patients with dilated cardiomyopathy (DCMP) and myocardial dilatation of ischemic genesis (DM IG).The total number of people surveyed is 221. The average age of the subjects was 55.309.69 years. Patients were divided into 2 groups: one of them patients with a diagnosis of dilated cardiomyopathy idiopathic (predictors of expansion of the heart cavities are excluded) and the other-patients with dilated myocardium of ischemic origin (a history of IHD). The number of patients in the first group was 111, including 99 (89.2%) men and 12 (10.8%) women. The average age of patients in this group is 51.739.74 years. The second group included patients with myocardial dilatation of ischemic origin. Their number is 110 people, including 100 (91.5%) men and 10 (8.5%) women. The average age of the respondents is 58.688.38 years. The control group consists of individuals who did not have any manifestations of cardiovascular diseases. Their number is 221 people (average age 53.64.8 years). Laboratory and instrumental studies, coronary angiography, and molecular genetic studies of the rs1042713 polymorphism of the ADRB2 gene were performed for all participants in the study. Those patients who were excluded predictors of the occurrence of dilation of the heart cavities were assigned to the first group. The second group included patients with a history of CHD. Results. In the group with DCMP, 10.8% of patients were carriers of the common homozygous AA genotype, the heterozygous AG genotype 48.6%, and the rare homozygous GG genotype 40.5%. In the group of patients with DM IG, 16.4% of patients were carriers of the common homozygous AA genotype, the heterozygous AG genotype 51.8%, and the rare homozygous GG genotype 31.8%. In the control group, 11.8% of patients were identified as carriers of the homozygous genotype for the common allele, 47.5% carriers of the heterozygous genotype, and 40.7% carriers of the homozygous genotype for the rare allele. No statistically significant results were obtained in the group of patients with DCMP and DM IG compared to the control group of the rs1042713 polymorphism of the ADRB2 gene. Conclusion. No association of ADRB2 gene rs1042713 polymorphism with DCMI and DM IG was revealed.


2020 ◽  
Vol 41 (Supplement_2) ◽  
Author(s):  
W Szczurek ◽  
M Gasior ◽  
M Skrzypek ◽  
G Kubiak ◽  
A Kuczaj ◽  
...  

Abstract   Background, As a consequence of the worldwide increase in life expectancy and due to significant progress in the pharmacological and interventional treatment of heart failure (HF), the proportion of patients that reach an advanced phase of disease is steadily growing. Hence, more and more numerous group of patients is qualified to the heart transplantation (HT), whereas the number of potential heart donors has remained invariable since years. It contributes to deepening in disproportion between the demand for organs which can possibly be transplanted and number of patients awaiting on the HT list. Therefore, accurate identification of patients who are most likely to benefit from HT is imperative due to an organ shortage and perioperative complications. Purpose The aim of this study was to identify the factors associated with reduced survival during a 1.5-year follow-up in patients with end-stage HF awating HT. Method We propectively analysed 85 adult patients with end-stage HF, who were accepted for HT at our institution between 2015 and 2016. During right heart catheterization, 10 ml of coronary sinus blood was additionally collected to determine the panel of oxidative stress markers. Oxidative-antioxidant balance markers included glutathione reductase (GR), glutathione peroxidase (GPx), glutathione transferase (GST), superoxide dismutase (SOD) and its mitochondrial isoenzyme (MnSOD) and cytoplasmic (Cu/ZnSOD), catalase (CAT), malondialdehyde (MDA), hydroperoxides lipid (LPH), lipofuscin (LPS), sulfhydryl groups (SH-), ceruloplasmin (CR). The study protocol was approved by the ethics committee of the Medical University of Silesia in Katowice. The endpoint of the study was mortality from any cause during a 1.5 years follow-up. Results The median age of the patients was 53.0 (43.0–56.0) years and 90.6% of them were male. All included patients were treated optimally in accordance with the guidelines of the European Society of Cardiology. Mortality rate during the follow-up period was 40%. Multivariate logistic regression analysis showed that ceruloplasmin (odds ratio [OR] = 0.745 [0.565–0.981], p=0.0363), catalase (OR = 0.950 [0.915–0.98], p=0.0076), as well as high creatinine levels (OR = 1.071 [1.002–1.144], p=0.0422) were risk factors for death during 1.5 year follow-up. Conclusions Coronary sinus lower ceruloplasmin and catalase levels, as well as higher creatinine level are independently associated with death during 1.5 year follow-up. Funding Acknowledgement Type of funding source: Public Institution(s). Main funding source(s): Medical University of SIlesia, Katowice, POland


2021 ◽  
Vol 48 (1) ◽  
pp. 69-79
Author(s):  
Amer Mahmoud Sindiani ◽  
Osamah Batiha ◽  
Esra’a Al-zoubi ◽  
Sara Khadrawi ◽  
Ghadeer Alsoukhni ◽  
...  

Objective: Poor ovarian response (POR) refers to a subnormal follicular response that leads to a decrease in the quality and quantity of the eggs retrieved after ovarian stimulation during assisted reproductive treatment (ART). The present study investigated the associations of multiple variants of the estrogen receptor 2 (ESR2) and follicle-stimulating hormone receptor (FSHR) genes with POR in infertile Jordanian women undergoing ART.Methods: Four polymorphisms, namely ESR2 rs1256049, ESR2 rs4986938, FSHR rs6165, and FSHR rs6166, were investigated in 60 infertile Jordanian women undergoing ART (the case group) and 60 age-matched fertile women (the control group), with a mean age of 33.60±6.34 years. Single-nucleotide polymorphisms (SNPs) were detected by restriction fragment length polymorphism and then validated using Sanger sequencing.Results: The p-value of the difference between the case and control groups regarding FSHR rs6166 was very close to 0.05 (p=0.054). However, no significant differences were observed between the two groups in terms of the other three SNPs, namely ESR2 rs1256049, ESR2 rs4986938, and FSHR rs6165 (p=0.561, p=0.433, and p=0.696, respectively).Conclusion: The association between FSHR rs6166 and POR was not statistically meaningful in the present study, but the near-significant result of this experiment suggests that statistical significance might be found in a future study with a larger number of patients.


CJEM ◽  
2016 ◽  
Vol 18 (S1) ◽  
pp. S46-S46 ◽  
Author(s):  
B.H. Rowe ◽  
N. Arrotta ◽  
J. Hill ◽  
E. Dennett ◽  
M. Harries

Introduction: Patients with asthma frequently present to the emergency department (ED) with exacerbations; however, a select number of patients require admission to hospital. The objective of this study was to summarize the evidence regarding asthma-related hospital admissions and factors associated with these admissions following ED presentation. Methods: Comprehensive literature searches were conducted in seven electronic databases (database inception to 2015); manual and grey literature searches were also performed. Studies reporting disposition for adults after ED presentation were included. Study quality was assessed using the Newcastle-Ottawa Scale (NOS); standardized data-collection forms were used for data extraction. Admission proportions and factors associated with admission at a statistical significance level (p<0.05) were reported. Results: Out of an initial 5865 identified articles, 37 articles met full inclusion criteria. Admission proportions were reported in 25/37 studies, ranged from 1% to 37%, and collectively demonstrated a decline of ~9% in admissions between 1993 and 2012. Studies including a >50% Caucasian ethnicity were found to have a median admission proportion of 13% (interquartile range [IQR]= 7, 20) versus studies with >50% non-Caucasian ethnicity at 22% (IQR=20, 28). Age, female sex, and previous hospitalizations for asthma exacerbation were the most individually identifiable factors associated with admission. Presenting features and medication profile were the most frequent domains associated with admission. Conclusion: Admission rates have decreased approximately 9% in a nearly 20-year span and seem to be higher in studies involving mostly non-Caucasian ethnic groups. Demographic factors, markers of severity obtained by history or at ED presentation, and medication profile could be assessed by ED clinicians to effectively discern patients at high risk for admission.


Twin Research ◽  
2001 ◽  
Vol 4 (6) ◽  
pp. 422-425 ◽  
Author(s):  
Simona Jirsova ◽  
Tonko Mardesic ◽  
Pavel Muller ◽  
Renata Huttelova ◽  
Jana Zvarova ◽  
...  

AbstractThe objective of this study was to compare perinatal results in multifetal pregnancies where the reduction to twins was performed with non-reduced twin pregnancies. Perinatal results in 99 sets of twins after transabdominal multifetal pregnancy reduction of triple and higher-order multiple pregnancies performed in a single center were compared with a control group consisting of 151 twin pregnancies conceived in the same time period after infertility treatment, which were not a result of reduction. The main outcome measures were length of pregnancies, weight of the newborns, percentage of miscarriages and the mode of the delivery were analyzed. No significant difference could be found at a 5% level of significance regarding the average duration of pregnancy or average weight of the twins. Fisher test on 5% significance level did not ascertain any significant difference in the probability of miscarriage between the group with reduction (5.26%) and the group without reduction (12.84%). At a 5% level of statistical significance, no significant difference in probability of perinatal death of the fetus or delivery of a stillborn fetus was found. The percentage of cesarean sections did not differ significantly in both groups. The analysis of both groups demonstrated that reduction of multifetal pregnancies to twins may not influence perinatal results in comparison to twin pregnancies where reduction was not performed.


2019 ◽  
Vol 100 (6) ◽  
pp. 885-891
Author(s):  
N R Azaeva

Aim. To study the effect of a fixed combination of perindopril arginine (10 mg) + indapamide (2.5 mg) + amlodipine (5 mg) on the daily profile of blood pressure and the structural and functional state of the heart in patients with hypertension grade 3. Methods. 80 patients with hypertension receiving various variants of treatment [50 patients (experimental group) receiving fixed combination of perindopril arginine (10 mg) + indapamide (2.5 mg) + amlodipine (5 mg) and 30 patients (control group) receiving combination of lisinopril with hydrochlorothiazide (10/12.520/25 mg) and amlodipine (5 mg)] underwent electrocardiography, Doppler echocardiography, daily monitoring of blood pressure at there points: at the beginning, after 2 weeks and 6 months of the treatment. Statistical significance of the indicators was determined by Students t-test. To compare the double changes, 2 was used. Statistical difference between the groups was considered significant if p 0.05. Results. In 86% of patients from the experimental group, a decrease in systolic blood pressure by 20 mm Hg or more and/or diastolic blood pressure by 10 mm Hg was noted, which persisted for 6 months. After 6 months of treatment, according to daily monitoring of arterial pressure, the average daily systolic and diastolic blood pressure significantly decreased by 15.9 and 18.6% (р 0.001), and the values of variability of average systolic and average diastolic pressure at night and daytime by 4 and 4.2%, respectively (р 0.001). A decrease in the morning rise rate of systolic and diastolic blood pressure was also achieved (р 0.001). During treatment, a number of patients with a daily curve of the dipper type increased due to a decrease in non-dippers and night pickers (р 0.001). Conclusion. Positive antihypertensive result after treatment with a combination of perindopril arqinine + indapamide + amlodipin was achieved in the early stages of treatment and was observed as a long-term stable hypotensive effect; a number of patients with normal daily rhythm of blood pressure increased, decrease of the severity of hypertrophy and size of the left ventricle was observed and its diastolic function became normal.


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