Background: Surgical methods such as coronary artery bypass grafting and percutaneous coronary interventions (PCI) are widely used along with traditional conservative therapy in the treatment of coronary artery disease. The disease outcome directly depends on timely diagnosis and treatment. A significant role in predicting the effectiveness of treatment is given to personification of treatment and management of the patient. In this case, the determining component is its individual genetic status. Methods: The study groups included persons of Kazakh nationality which identify themselves, their biological parents, and biological grandparents on the maternal and paternal side as Kazakh. Research groups included 108 people at the age from 45 to 65 years of both sexes. Blood samples genotyping was carried out by PCR using highly specific TaqMan samples. Thermo Fisher cloud application was used for genotypes determining on the base of an automatic algorithm. Results: The article presents the results of the evaluation of gene polymorphisms associated with coronary artery restenosis in a population of Kazakh nationality. 3 SNPs were determined when searching for an association with stenting due to coronary artery thrombosis: rs7543130 (p=0.009324), rs6785930 (p=0.016858), rs7819412 (p=0.061325). Conclusion: Four polymorphisms associated with the risk of developing coronary heart disease were revealed during the study of polymorphisms among the people of the Kazakh population. Three SNPs were determined when searching for an association with stenting due to coronary artery thrombosis. It should be noted that the Bonferonni correction for multiple comparisons did not reveal significant polymorphisms associated with coronary artery disease, which requires further research with more quantity of samples.

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%.

Background/Objectives: Preeclampsia is a multifactorial disorder with a possible genetic component. While numerous studies have explored genetic susceptibility, validation remains inconsistent. The aim was to assess the association between hypertension-related polymorphisms and preeclampsia risk. Methods: A case–control study was conducted in Karaganda, Kazakhstan (n = 95). Sixty SNPs were genotyped using the QuantStudio™ 12K Flex system. Genotype–phenotype associations were evaluated using five inheritance models and statistical analysis in R. Results: Significant associations were found for rs2516839 (C/T: OR = 5.28; 95% CI: 1.53–18.15), rs17672135 (T/T: OR = 3.48; CI: 1.05–11.5), and rs10757278 (A/G: OR = 0.3; CI: 0.11–0.83). However, wide confidence intervals suggest potential limitations in sample size and generalizability. Conclusions: While these polymorphisms show promise as genetic markers of preeclampsia risk, their clinical application requires further validation in larger, multi-ethnic cohorts.

Introduction: Idiopathic pulmonary arterial hypertension (IPAH) is a progressive and fatal disease. The aim of this study was to evaluate the association of polymorphism of the type 2 bone morphogenetic protein receptor gene (BMPR2) with the risk of IPAH development in an ethnic group of Kazakhs. We also describe the clinical and hemodynamic characteristics and outcomes of patients with and without carriers of BMPR2 gene mutations in IPAH. No available research highlights this problem in an ethnic group of Kazakhs. Materials and methods: A total of 53 patients of only Kazakh nationality with IPAH participated in the study. Clinical, functional, and hemodynamic characteristics, as well as the outcome of the disease, were compared among carriers and non-carriers of the BMPR2 mutation. Results: When receiving IPAH diagnosis, the average age of patients was 40.0 (32.0–48.0) years. Women predominated among the patients (86.8%). Of these, 17 (32.0%) were carriers of the gene mutation, and 36 (68.0%) did not have this mutation. The results of our research demonstrate that the Rs17199249 variant in BMPR2 contributed to increased susceptibility to IPAH. The T allele was associated with an increased risk of IPAH, with T = 75 (70.75%), G = 31 (29.24%), MAF—0.2925, x²—0.001, and HWE p—0.975. Carriers of the BMPR2 mutation were predominantly women (80.0%), and they had higher pulmonary vascular resistance (8.7–14.9 vs. 5.9–12.6 WU; p = 0.038), a low cardiac index (1.9–2.6 vs. 2.3–3.1 L/min per m²; p = 0.027), and a shorter time to death (p = 0.022). Conclusions: This is the first study of the genetic causes of IPAH that demonstrates the genetic polymorphism of BMPR2 is associated with an increased risk of IPAH developing with worse hemodynamic parameters and clinical outcomes.

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.