Genetic Predisposition to Early Myocardial Infarction

Goncharova, I. A.; Nazarenko, M. S.; Babushkina, N. P.; Марков, А. В.; Печерина, Т. Б.; Кашталап, В. В.; Tarasenko, N. V.; Понасенко, А. В.; Барбараш, О. Л.; Puzyrev, V P

doi:10.1134/s0026893320020041

Cited by 9 publications

(7 citation statements)

References 27 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…On the other hand, studies looking for a connection of rs1333049 with MI gave divergent results. Several published studies [ 30 , 31 , 32 , 33 , 34 , 35 ] determined a positive relationship between CC genotype or C allele and MI. None of them was performed on the Slovenian population, but they used the “healthy” (without known CAD) population as a control group.…”

Section: Discussionmentioning

confidence: 99%

“…However, to exclusively show a relationship with MI but not with its prerequisite—CAD, future study should be designed differently with a control group that would include CAD subjects without MI. On the other hand, most studies [ 30 , 31 , 32 , 33 , 34 , 35 ], including ours, looking into the connection of rs1333049 polymorphism with MI used control groups based on the absence of clinical signs of CAD and not on angiographically excluded CAD. Therefore, participants of our and such studies could also have clinically silent CAD, which affects results.…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Association of Myocardial Infarction with CDKN2B Antisense RNA 1 (CDKN2B-AS1) rs1333049 Polymorphism in Slovenian Subjects with Type 2 Diabetes Mellitus

Tibaut

Naji

Petrovič

2022

Genes

View full text Add to dashboard Cite

Background: We examined the role of rs1333049 polymorphism of the CDKN2B Antisense RNA 1 (CDKN2B-AS1) on the prevalence of myocardial infarction (MI) in Slovenian subjects with type 2 diabetes mellitus (T2DM). Methods: A total of 1071 subjects with T2DM were enrolled in this retrospective cross-sectional case-control study. Of the subjects, 334 had a history of recent MI, and 737 subjects in the control group had no clinical signs of coronary artery disease (CAD). With logistic regression, we performed a genetic analysis of rs1333049 polymorphism in all subjects. Results: The C allele of rs1333049 polymorphism was statistically more frequent in MI subjects (p = 0.05). Subjects with CC genotype had a higher prevalence of MI than the control group in the co-dominant (AOR 1.50, CI 1.02–2.21, p = 0.04) and recessive (AOR 1.38, CI 1.09–1.89, p = 0.04) genetic model. Conclusions: According to our study, the C allele and CC genotype of rs1333049 polymorphism of CDKN2B-AS1 are possible markers of MI in T2DM subjects in the Slovenian population.

show abstract

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Association of Myocardial Infarction with CDKN2B Antisense RNA 1 (CDKN2B-AS1) rs1333049 Polymorphism in Slovenian Subjects with Type 2 Diabetes Mellitus

Tibaut

Naji

Petrovič

2022

Genes

View full text Add to dashboard Cite

show abstract

“…To assess the association of Major Histocompatibility Complex (MHC) genes with prognosis-related genes, the correlation analysis was carried out. According to the risk score of ESCC samples in TCGA-ESCC dataset and the expressions of 22 MHC genes, correlation coefficients were computed between MHC genes and risk score, and between MHC genes and prognosis-related genes by R package stats (version 4.1.0) ( 25 ) by setting |Cor| > 0.3 and P < 0.05, respectively. Then, to understand the response to immunotherapy in patients with different risks, the differences in immunotherapy response between high-/low-risk groups was analyzed.…”

Section: Methodsmentioning

confidence: 99%

“…After that, patients with TIDE score ≥ 0 were considered deemed to be non-responders to immunotherapy, and those with a TIDE score ≤ 0 were deemed to be responders to immunotherapy, followed by calculation of their proportions in the different risk groups. The correlations of these three scores with risk score were also analyzed utilizing R package stats (version 4.1.0) ( 25 ). Furthermore, the association between 48 immune checkpoints and risk score was explored, and expressions of immune checkpoints between different risk groups were also compared.…”

Section: Methodsmentioning

confidence: 99%

Immune cell related signature predicts prognosis in esophageal squamous cell carcinoma based on single-cell and bulk-RNA sequencing

Wang,

Peng,

Zhao

et al. 2024

Front. Oncol.

View full text Add to dashboard Cite

BackgroundIt has been reported that tumor immune microenvironment performs a vital role in tumor progress. However, acting mechanism of immune cell related genes (IRGs) in esophageal squamous cell carcinoma (ESCC) is uncertain.MethodsTCGA-ESCC, GSE23400, GSE26886, GSE75241, and GSE196756 datasets were gained via public databases. First, differentially expressed genes (DEGs) between ESCC and control samples from GSE23400, GSE26886, and GSE75241 were screened out by differential expression analysis, and overlapping DEGs were identified. Single-cell transcriptome data of GSE196756 were applied to explore immune cells that might be involved in regulation of ESCC. Then, weighted gene co-expression network analysis was applied to screen IRGs. Next, differentially expressed IRGs (DE-IRGs) were identified by overlapping IRGs and DEGs, and were incorporated into univariate Cox, least absolute shrinkage and selection operator, and multivariate Cox to acquire prognosis-related genes, and ESCC samples were grouped into high-/low-risk groups on the basis of median risk score. Finally, the role of prognosis model in immunotherapy was analyzed.ResultsTotally 248 DEGs were yielded by overlapping 3,915 DEGs in GSE26886, 459 DEGs in GSE23400, and 1,641 DEGs in GSE75241. Single-cell analysis found that B cells, dendritic cells, monocytes, neutrophils, natural killer cells, and T cells were involved in ESCC development. Besides, MEred, MEblack, MEpink, MEblue and MEbrown modules were considered as key modules because of their highest correlations with immune cell subtypes. A total of 154 DE-IRGs were yielded by taking intersection of DEGs and genes in key modules. Moreover, CTSC, ALOX12, and RMND5B were identified as prognosis-related genes in ESCC. Obviously, Exclusion and TIDE scores were notably lower in high-risk group than in the other one, indicating that high-risk group was more responsive to immunotherapy.ConclusionsThrough bioinformatic analysis, we identified a prognosis model consisting of IRGs (CTSC, ALOX12, and RMND5B) in ESCC, providing new ideas for studies related to treatment and prognosis of ESCC.

show abstract

“…The gene ontology and pathway functional enrichment analyses of DEGs were performed using the Stats R package [ 15 ]. The false discovery rate (FDR) of each P value was calculated, and the terms with FDR ≤ 0.01 were defined as significantly enriched.…”

Section: Methodsmentioning

confidence: 99%

Metabolites and gene expression in the myocardium of fasting rats in an acute hypoxic environment

et al. 2023

View full text Add to dashboard Cite

With the rising demand for entry to extremely high altitudes (HAs), rapid adaptability to extremely hypoxic environments is a challenge that we need to explore. Fasting was used to evaluate acute hypoxia tolerance at HA and was proven to be an effective method for improving the survival rate at extreme HA. Our experiments also showed that fasting pretreatment for 72 h significantly increased the 24 h survival rate of rats at 7620 m from 10 to 85% and protected the myocardium cells of rats. Here, we compared the metabolites and gene expression in the myocardium of SD rats pretreated with fasting and nonfasting at normal altitude and extreme HA. Our findings demonstrated that the dynamic contents of detected differential metabolites (DMs) between different rat groups were consistent with the expression of differentially expressed genes (DEGs), and DM clusters also showed strong correlations with DEG clusters. DM clusters related to amino acids and lipids were significantly lower in the fasting groups, and the correlated DEG clusters were enriched in mitotic pathways, including CDK1, CDC7, NUF2, and MCM6, suggesting that fasting can attenuate mitotic processes in cardiac tissues and reduce the synthesis of amino acids and lipids. L-Glutamine-related metabolites were particularly low at extreme HA without pretreatment but were normal in the fasting groups. The DEGs in the cluster related to L-glutamine-related metabolites were enriched for T-cell receptor V(D)J recombination, the Hippo signaling pathway, the Wnt signaling pathway, the cGMP-PKG signaling pathway, and the mTOR signaling pathway and were significantly downregulated, indicating that the content of L-glutamine decreased at extreme HA, while fasting increased it to adapt to the environment. Moreover, abundant fatty acids were detected when rats were exposed to extreme HA without pretreatment. Our study revealed the fasting and hypoxic environment-related factors in SD rats and provided new insights into the genetic and molecular characteristics in the myocardium, which is critical to developing more potential rapid adaptation methods to extreme HA.

show abstract

Genetic Predisposition to Early Myocardial Infarction

Cited by 9 publications

References 27 publications

Association of Myocardial Infarction with CDKN2B Antisense RNA 1 (CDKN2B-AS1) rs1333049 Polymorphism in Slovenian Subjects with Type 2 Diabetes Mellitus

Association of Myocardial Infarction with CDKN2B Antisense RNA 1 (CDKN2B-AS1) rs1333049 Polymorphism in Slovenian Subjects with Type 2 Diabetes Mellitus

Immune cell related signature predicts prognosis in esophageal squamous cell carcinoma based on single-cell and bulk-RNA sequencing

Metabolites and gene expression in the myocardium of fasting rats in an acute hypoxic environment

Contact Info

Product

Resources

About