Association of NFE2L2 Gene Polymorphisms with Risk and Clinical Characteristics of Acute Type A Aortic Dissection in Han Chinese Population

Zhang, Yiran; Qi, Zhongang; Chen, Ruoshi; Dai, Xiaoyi; Zhu, Yimin

doi:10.1155/2021/5173190

Cited by 4 publications

(5 citation statements)

References 36 publications

(32 reference statements)

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“…Nuclear factor E2-related factor 2 (NRF2) is encoded by the NFE2L2 gene, and the NRF2/ARE signaling pathway is considered a potential therapeutic strategy for antioxidative stress-mediated diseases, such as diabetes, fibrosis, and cancer ( Thiruvengadam et al, 2021 ). NFE2L2 polymorphism is associated with acute type A aortic coarctation risk and severity in a Chinese Han population ( Zhang et al, 2021 ). RAD21, RELA, and TAL1 are reportedly associated with tumors ( Wu et al, 2019 ; Cao et al, 2021 ; Wang et al, 2021 ).…”

Section: Discussionmentioning

confidence: 99%

miR-22-3p as a potential biomarker for coronary artery disease based on integrated bioinformatics analysis

Zhang

et al. 2022

Front. Genet.

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Background: Coronary artery disease (CAD) is a common cardiovascular disease that has attracted attention worldwide due to its high morbidity and mortality. Recent studies have shown that abnormal microRNA (miRNA) expression is effective in CAD diagnoses and processes. However, the potential relationship between miRNAs and CAD remains unclear.Methods: Microarray datasets GSE105449 and GSE28858 were downloaded directly from the Gene Expression Omnibus (GEO) to identify miRNAs involved in CAD. Target gene prediction and enrichment analyses were performed using Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG).Results: There were nine differentially expressed miRNAs in CAD patients compared to the controls. A total of 352 genes were predicted and subjected to GO analysis, which showed that differentially expressed genes (DEGs) were mainly associated with axon guidance, neuron projection guidance, neuron-to-neuron synapses, and postsynaptic density. According to the KEGG pathway analysis, the most enriched pathways were those involved in transcriptional misregulation in cancer, growth hormone synthesis, secretion and action, endocrine resistance, axon guidance, and Cushing syndrome. Pathway analysis was mainly involved in the HIPPO and prion disease signaling pathways. Furthermore, a competing endogenous RNA (ceRNA) interaction network centered on miR-22-3p revealed eight related transcription factors in the cardiovascular system. The receiver operating characteristic (ROC) curve analysis suggested that miR-22-3p may be a better CAD predictor.Conclusion: The results indicate that miR-22-3p may function in pathophysiological CAD processes. Our study potentiates miR-22-3p as a specific biomarker for diagnosing CAD.

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Section: Discussionmentioning

confidence: 99%

miR-22-3p as a potential biomarker for coronary artery disease based on integrated bioinformatics analysis

Zhang

et al. 2022

Front. Genet.

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“…However, if confirmed in larger cohorts, the evidence of a deleterious effect of the minor genotype of rs2364723 on the oxidative stress of patients with poor glycemic control would have a significant relevance, especially in clinical contexts with a high prevalence of patients with poor glycemic control. The CC genotype of rs2364723 has been previously associated with major cardiovascular events and reduced heart rate variability [ 9 , 13 ]. Similar to our results, the minor allele of rs2364723 has been associated with the risk of complications in patients with type 2 diabetes of both Chinese and European ancestry [ 11 , 12 ].…”

Section: Discussionmentioning

confidence: 99%

“…The genetic variation at NFE2L2 has been associated with vascular function (forearm blood flow), autonomic function (heart rate variability), major vascular events and type 2 diabetes complications in cohorts and case control sets of adults [ 9 , 10 , 11 , 12 , 13 ]. Especially, the minor allele of rs2364723, which is in complete linkage disequilibrium with the promoter SNP rs35652124, known to impede the NFE2L2 transcriptional activity, has been consistently associated with unfavorable outcomes [ 9 , 10 , 11 , 12 , 14 , 15 ]. We have previously observed that the concentration of serum derivatives of reactive oxygen metabolites (d-ROMs) is increased compared to healthy peers in a cohort of 412 children/adolescents with T1D [ 7 ].…”

Section: Introductionmentioning

confidence: 99%

Genetic Variation in Antioxidant Response Modulates the Level of Oxidative Stress in Youth with Type 1 Diabetes and Poor Glycemic Control

et al. 2022

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Background: The minor allele of the single nucleotide polymorphism (SNP) rs2364723 of NFE2L2, a gene encoding a master antioxidant transcription factor, has been associated with poor cardiovascular outcomes and with complications of type 2 diabetes. We assessed the association between rs2364723 of NFE2L2 and oxidative stress in children/adolescents with type 1 diabetes (T1D). Methods: In 384 children/adolescents with T1D (age 15.7 ± 3.2 years, 207 males), we assessed the oxidative stress by measuring the concentration of derivatives of reactive oxygen metabolites (d-ROMs) and we genotyped the rs2364723 SNP by real time polymerase chain reaction. Results: The concentration of d-ROMs was 372.8 ± 64.6 Carratelli units. The minor genotype (CC) of rs2364723 at NFE2L2 was associated with higher concentration of derivatives of d-ROMs in the subgroup with HbA1c ≥ 8% (B = 47.85, p for genotype ∗ HbA1c interaction = 0.019). Conclusions: The carriers of the minor genotype of rs2364723 may have increased oxidative stress compared to their counterparts with other genotypes, especially in case of poor glycemic control. This observation needs to be replicated and confirmed in larger independent cohorts of youth with T1D.

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“…NFE2L2 controls cellular response to oxidative insults, thus preventing damage to components sensitive to redox changes such as proteins, lipids and DNA. NFE2L2 is a putative regulator of the cardiac stress-response [85], and it has been found that NFE2L2 gene polymorphisms are associated with the risk and severity of acute type A aortic dissection [86]. MARCHF6 is a ubiquitin ligase embedded in the membranes of the ER, which participates in ER-associated degradation, including autoubiquitination [87].…”

Section: Protein Processing In the Endoplasmic Reticulum (Er) Pathwaymentioning

confidence: 99%

Pulmonary artery embolism: comprehensive transcriptomic analysis in understanding the pathogenic mechanisms of the disease

et al. 2023

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Background Pulmonary embolism (PE) is a severe disease that usually originates from deep vein thrombosis (DVT) of the lower extremities. This study set out to investigate the changes in the transcriptome of the pulmonary artery (PA) in the course of the PE in the porcine model. Methods The study was performed on 11 male pigs: a thrombus was formed in each right femoral vein in six animals, and then was released to induce PE, the remaining five animals served as a control group. In the experimental animals total RNA was isolated from the PA where the blood clot lodged, and in the control group, from the corresponding PA segments. High-throughput RNA sequencing was used to analyse the global changes in the transcriptome of PA with induced PE (PA-E). Results Applied multistep bioinformatics revealed 473 differentially expressed genes (DEGs): 198 upregulated and 275 downregulated. Functional Gene Ontology annotated 347 DEGs into 27 biological processes, 324 to the 11 cellular components and 346 to the 2 molecular functions categories. In the signaling pathway analysis, KEGG ‘protein processing in endoplasmic reticulum’ was identified for the mRNAs modulated during PE. The same KEGG pathway was also exposed by 8 differentially alternative splicing genes. Within single nucleotide variants, the 61 allele-specific expression variants were localised in the vicinity of the genes that belong to the cellular components of the ‘endoplasmic reticulum’. The discovered allele-specific genes were also classified as signatures of the cardiovascular system. Conclusions The findings of this research provide the first thorough investigation of the changes in the gene expression profile of PA affected by an embolus. Evidence from this study suggests that the disturbed homeostasis in the biosynthesis of proteins in the endoplasmic reticulum plays a major role in the pathogenesis of PE.

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Association of NFE2L2 Gene Polymorphisms with Risk and Clinical Characteristics of Acute Type A Aortic Dissection in Han Chinese Population

Cited by 4 publications

References 36 publications

miR-22-3p as a potential biomarker for coronary artery disease based on integrated bioinformatics analysis

miR-22-3p as a potential biomarker for coronary artery disease based on integrated bioinformatics analysis

Genetic Variation in Antioxidant Response Modulates the Level of Oxidative Stress in Youth with Type 1 Diabetes and Poor Glycemic Control

Pulmonary artery embolism: comprehensive transcriptomic analysis in understanding the pathogenic mechanisms of the disease

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