BACKGROUND: Atrial fibrillation (AF) is the most common persistent heart rhythm disorder. AIM: Assessment of clinical predictors of atrial fibrillation in the Kazakh population. METHODS: An analytical clinical and epidemiological study of 75 patients with AF of Kazakh nationality. Descriptive analysis of medical records was carried out and the results of laboratory and instrumental research methods. Statistical analysis was carried out using the Statistica 6.0 Software package from StatSoft Inc. (USA) and MS Excel. RESULTS: In the majority of the studied patients (86.7%), atrial fibrillation was associated with hypertension, in 49.3% of patients was diagnosed with coronary artery disease. A permanent form of atrial fibrillation was observed in 63%, in 20% AF manifested itself in the form of paroxysms, in 17% AF was persistent. AF, which arose against the background of CHF, was established in 41.3% of the patients studied by us, while a decrease in LVEF below 40% was observed in 21.3% of the examined patients. In our study, diabetes mellitus was diagnosed as a comorbid pathology in 24% of patients and diabetes mellitus correlated with permanent AF in 66.7%. Thyroid pathology was observed in 9.3% cases. CRHD as a concomitant disease occurred in 12% of cases. In 5.7% of cases, AF was registered as idiopathic (primary) without a history of cardiovascular and concomitant pathology. Smoking as a risk factor was observed in 16%, alcohol consumption, was noted by 8 patients (10.7%). In 40% of cases, patients with AF were obese, 45.3% of the patients were overweight (BMI ≥25).

BACKGROUND: There is a reason to believe that the polymorphism of genes encoding some enzymes and receptors plays a role in increasing of restenosis development risk. It is common knowledge that ethnicity affects the frequency of heterozygous genotypes occurrence. There is the evidence that polymorphism of the FGB gene (rs1800790) and THBD gene was determined in the ethnic group of Kazakhs with restenosis of the coronary arteries, which can be considered as genetic predictors of restenosis development. Today, the questions of the role of the genetic component in the development of coronary heart disease (CHD) remain open. AIM: Evaluation of gene polymorphism in patients with restenosis of coronary arteries after stent installation. MATERIALS AND METHODS: The group consisted of Kazakh population of the age category from 45 to 65 years of both sexes: Group I (50 persons) patients with a diagnosis of CHD, with a fixed stent and the development of restenosis during the year; Group 2 (58 persons) – with a fixed stent and no restenosis during the year. The association of genetic polymorphisms was evaluated in accordance with the case–control design based on the generalized linear model assuming a log-additive inheritance model. RESULTS: Thus, when comparing two groups using five patterns of inheritance, the following SNP were revealed: Codominant inheritance pattern – rs1045642 (p = 0.0427), dominant inheritance pattern – rs12041331 (p = 0.036088), rs13431554 (p = 0.025461), and rs1045642 (p = 0.012774), and overdominant inheritance pattern – rs12041331 (p = 0.051736), rs5918 (p = 0.057652), and rs13431554 (р = 0.036006). Thus, three SNPs associated with stenting were identified: rs7543130 (p = 0.009324), rs6785930 (p = 0.016858), and rs7819412 (p = 0.061325) and two SNPs associated with the development of restenosis after stent placement: rs1061781 (p = 0.063184) and rs342293 (p = 0.061636). CONCLUSION: The polymorphisms associated with the risk of developing restenosis after stenting were determined: Codominant inheritance pattern – one polymorphism (rs1045642, p = 0.0427); dominant inheritance pattern – three polymorphisms (rs12041331, p = 0.036088; rs13431554, p = 0.025461; rs1045642, p = 0.012774), and overdominant inheritance pattern – one polymorphism (rs13431554, p = 0.036006). Based on the hybrid machine learning approach (RuleFit), four rules were obtained for assessing the empirical risk of restenosis developing after stenting – from 20% to 40%.

Due to the fact that there are scientific discussions about the significance of gene polymorphisms in the risk of developing cardiovascular complications after a percutaneous coronary intervention, it is of interest to evaluate the genetic predictors of the development of cardiovascular events. This study is a molecular genetic study. Association with the genes of biomarkers for inflammation and immune response increases the risk of cardiovascular events: rs1234313 (TNFSF4): (A/G, OR-4.57 (2.35–8.87), p ≤ 0.0001), (A/G-A/A, OR-3.14 (1.75–5.63), p ≤ 0.0001), and (A/G, OR = 4.01 (2.19–7.36), p ≤ 0.0001); rs3184504 (SH2D3); ATXN2: (C/T, OR-2.53 (1.28–5.01), T/T, OR-2.99 (1.13–7.92), p = 0.017)), (C/T-T/T, OR-2.61 (1.35–5.07), p = 0.000), and (OR-1.89 (1.15–3.09), p = 0.009)). According to the lipid metabolism biomarker genes, rs2943634: (A/C OR-2.57 (1.18–5.62), p = 0.013); according to the endothelial biomarker genes, rs2713604: (DNAJB8-AS1; GATA2): (C/T, OR-4.27 (2.35–7.76), p ≤ 0.0001), (C/T-C/C, OR-4.13 (2.31–7.40), p ≤ 0.0001), (OR-4.05 (2.24–7.30), p ≤ 0.0001), and (C/T, OR-3.46 (1.99–6.00), p ≤ 0.0001). The regression analysis found that in the presence of the rs2943634 gene polymorphism, the risk of late cardiovascular events increases by 4.007 times with 95% CI (1.502:10.692), p = 0.006. The genes of biomarkers for the risk of cardiovascular events are rs1234313(TNFSF4), rs3184504 (SH2D3; ATXN2), rs2943634, and rs2713604 (DNAJB8-AS1; GATA2). The only predictor of the development of new cardiovascular events was rs2943634, which belongs to the group of lipid metabolism biomarkers.

Journal of Clinical Medicine of Kazakhstan

Atrial fibrillation (AF) is the most common persistent heart rhythm disorder, the prevalence of which increases with age. The progressive prevalence of AF is becoming a serious threat to public health throughout the world, as it is associated with high mortality rates. In the review, we analyzed the literature data on the state of knowledge of the genetic nature of AF. To achieve this goal, a systematic search and subsequent analysis of publications and online resources was carried out. All publications are indexed in PubMed, Medline, e-library, Coogle Scholar. To date, at least 30 loci associated with AF have been identified. At the same time, the research results depend on such factors as ethnicity, concomitant cardiac and extracardiac diseases, inheritance mechanisms, and intergenic interactions. The complexity of etiopathogenesis, the heterogeneity of AF poses the task of researchers to further search for factors that play a leading role in the development of the disease. Significant progress in understanding the genetic basis of AF was achieved with the advent of large-scale genomic GWAS studies, which include genotyping up to a million common variants or single nucleotide polymorphisms. The currently available data on the association of candidate genes with AF in case-control studies are controversial and necessitate more detailed studies on various ethnic groups.

Background/Objectives: Cardiovascular disease (CVD) is the leading cause of death worldwide, primarily owing to plaque formation in the coronary artery, which causes stenosis. One of the important causes in the development of atherosclerosis is systemic oxidative stress, which can be altered by serum paraoxonase 1 (PON1), one of the enzymes located on the high-density lipoprotein (HDL) particles. Methods: the study design used in this clinical and genetic investigation case-control. A total of 257 persons were investigated, including 149men and 108 women. The subjects were the indigenous population of Kazakh nationality of both sexes aged 45-80 years, living in the region of Karaganda, hospitalized in city-level clinics. The study was performed in the Laboratory of collective use of «Karaganda Medical University» non-commercial joint-stock company in Karaganda. The genetic research was conducted at the Laboratory of genomic and personalized medicine, National Laboratory Astana, Nazarbayev University, Kazakhstan. Results: The results show that traditional risk factors for atherosclerosis and CHD, such as dyslipidemia, hypertension, smoking increased body mass index does not always make a significant contribution to the development of cardiovascular complications after PCI in patients with CHD. According to the genotype study, the polymorphism of the PON1-rs854560 [L55M] a/a homozygous allele was detected in 54.5 % of the examined individuals. Conclusions: Thus, the polymorphism of the PON1 gene, which encodes an enzyme of the body's antioxidant defense system, correlates with the development of CHD.