Genetic Polymorphisms Association in Restenosis of Coronary Arteries

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%

Dynamic changes in purine catabolism in patients with acute coronary syndrome that underwent percutaneous coronary intervention

Background: Cardiovascular diseases are global problems. They are causes of death in about 43 of people worldwide and may become the most widespread reason of death by 2020. The prognosis is directly dependent to immediate diagnosis and on time treatment. Introduction of new biochemical markers as the early diagnosis of complications after coronary revascularization is very important in this period. Herein, we assayed the changes of purine catabolites in patients with acute coronary syndrome (ACS) before and after percutaneous coronary intervention (PCI) in comparison with control group. Methods: Thirty five ACS patients (20 males and 15 females) were included (57±17 years old) in the study. The determination of intermediates of purine catabolism as guanine, hypoxanthine (GCS), adenine, xanthine (Kc) and uric acid (MK) were assayed before and 3 days after PCI. Conditionally, 35 healthy-matched persons were included in the control group. Purine catabolites were determined in plasma through the method of Oreshnikov E.V (2008). Results: In ACS patients, prior to PCI, there was a tendency to increase the concentration of guanine (P=0.001), hypoxanthine (P=0.002) adenine (P=0.0003), xanthine (P=0.000003) and uric acid (P=-0.000001) relative to the upper limits of normal ranges. And on the third day after PCI, there was the second tendency to increase the levels of guanine (P=0.000001), hypoxanthine (P=0.000001) adenine (P=0.0000001), xanthine (P=0.000001) and uric acid (P=0.0000001) relative to upper limits of normal ranges. Conclusion: Increment of plasma purine catabolites can be a marker of inflammation and instability of coronary artery plaques and may be used as a restenosis marker in patients with history of PCI. &#160

Education of Patients With Atrial Fibrillation and Evaluation of the Efficacy of a Mobile Virtual Patient Environment: Protocol for a Multicenter Pseudorandomized Controlled Trial

BackgroundAtrial fibrillation (AF) is the most common sustained cardiac arrhythmia and is a leading cause of mortality and morbidity. Patient knowledge about AF and its management is paramount but often limited. Patients need to be appropriately informed about treatment options, medicinal adherence, and potential consequences of nonadherence, while also understanding treatment goals and expectations from it. Mobile health apps have experienced an explosion both in their availability and acceptance as “soft interventions” for patient engagement and education; however, the prolific nature of such solutions revealed a gap in the evidence base regarding their efficacy and impact. Virtual patients (VPs), interactive computer simulations, have been used as learning activities in modern health care education. VPs demonstrably improved cognitive and behavioral skills; hence, they have been effectively implemented across undergraduate and postgraduate curricula. However, their application in patient education has been rather limited so far. ObjectiveThis work aims to implement and evaluate the efficacy of a mobile-deployed VP regimen for the education and engagement of patients with AF on crucial topics regarding their condition. A mobile VP app is being developed with the goal of each VP being a simple scenario with a set goal and very specific messages and will be subsequently attempted and evaluated. MethodsA mobile VP player app is being developed so as to be used for the design of 3 educational scenarios for AF management. A pseudorandomized controlled trial for the efficacy of VPs is planned to be executed at 3 sites in Greece, Ukraine, and Kazakhstan for patients with AF. The Welch t test will be used to demonstrate the performance of patients’ evaluation of the VP experience. ResultsOur study is at the development stage. A preliminary study regarding the system’s development and feasibility was initiated in December 2022. The results of our study are expected to be available in 2024 or when the needed sample size is achieved. ConclusionsThis study aims to evaluate and demonstrate the first significant evidence for the value of VP resources in outreach and training endeavors for empowering and patients with AF and fostering healthy habits among them. International Registered Report Identifier (IRRID)PRR1-10.2196/4594

Genetic Predictors of the Development of Complications after Coronary Stenting

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

Genetic risk factors for restenosis after percutaneous coronary intervention in Kazakh population

Background: After coronary stenting, the risk of developing restenosis is from 20 to 35 %. The aim of the present study is to investigate the association of genetic variation in candidate genes in patients diagnosed with restenosis in the Kazakh population. Methods: Four hundred fifty-nine patients were recruited to the study; 91 patients were also diagnosed with diabetes and were excluded from the sampling. DNA was extracted with the salting-out method. The patients were genotyped for 53 single-nucleotide polymorphisms. Genotyping was performed on the QuantStudio 12K Flex (Life Technologies). Differences in distribution of BMI score among different genotype groups were compared by analysis of variance (ANOVA). Also, statistical analysis was performed using R and PLINK v.1.07. Haplotype frequencies and LD measures were estimated by using the software Haploview 4.2. Results: A logistic regression analysis found a significant difference in restenosis rates for different genotypes. FGB (rs1800790) is significantly associated with restenosis after stenting (OR = 2.924, P = 2.3E−06, additive model) in the Kazakh population. CD14 (rs2569190) showed a significant association in the additive (OR = 0.08033, P = 2.11E−09) and dominant models (OR = 0.05359, P = 4.15E−11). NOS3 (rs1799983) was also highly associated with development of restenosis after stenting in additive (OR = 20.05, P = 2.74 E−12) and recessive models (OR = 22.24, P = 6.811E−10). Conclusions: Our results indicate that FGB (rs1800790), CD14 (rs2569190), and NOS3 (rs1799983) SNPs could be genetic markers for development of restenosis in Kazakh population. Adjustment for potential confounder factor BMI gave almost the same results