Association of maternal hypertension and diabetes with variants of the NKX2-5, LEFTY1 and LEFTY2 genes in children with congenital heart defects: a case-control study from Pakistani Population

Genetic factors play a significant role in the development of congenital heart disease (CHD). Many studies on the genetics of CHD have been published worldwide; however, no research has assessed and mapped the global research landscape of these studies. This bibliometric and visualized study aimed to delineate research hotspots and trends in the field of CHD genetics. Scientific papers on the genetics of CHD from January 1, 1950, to December 31, 2023, were obtained by searching the Web of Science Core Collection. The bibliometric metadata of each chosen research paper were extracted, analyzed, and visualized using tools such as Microsoft Excel 2021, VOSviewer, and CiteSpace. The final analysis included 5317 papers discussing the genetics of CHD. The countries and journals that published the highest number of papers were the United States (n = 2118), and American Journal of Medical Genetics Part A (n = 332), respectively. In addition to CHD and genetics, keywords such as tetralogy of Fallot, ventricular septal defect, and atrial septal defect appeared most frequently among 8365 keywords. Eight clusters were formed to categorize the keywords. Keywords such as case–control study, whole genome sequencing, and whole exome sequencing in clusters 6, 7, and 8, respectively, had the latest average publication year among all clusters. To the best of our knowledge, this is the first bibliometric analysis of CHD genetics studies. Tetralogy of Fallot, ventricular septal defect, and atrial septal defect are global research topics. The interactions between environmental and genetic factors in the pathogenesis of CHD, genetic etiology of CHD-associated pulmonary arterial hypertension, and molecular genetics of CHD via high-throughput genomic technology are possible areas of future research on the genetics of CHD.

show abstract

Identification of novel key genes and signaling pathways in hypertrophic cardiomyopathy: evidence from bioinformatics and next generation sequencing data analysis

Vastrad,

Vastrad

2024

Preprint

View full text Add to dashboard Cite

Hypertrophic cardiomyopathy (HCM) is a global health problem characterized by left ventricle become thick and stiff with effect of indication including chest pain, fluttering, fainting and shortness of breath. In this investigation, we aimed to identify diagnostic markers and analyzed the therapeutic potential of essential genes. Next generation sequencing (NGS) dataset GSE180313 was obtained from the Gene Expression Omnibus (GEO) database and used to identify differentially expressed genes (DEGs) in HCM. DEGs were screened using the DESeq2 Rbioconductor tool. Then, Gene Ontology (GO) and REACTOME pathway enrichment analyses were performed. Moreover, a protein-protein interaction (PPI) network of the DEGs was constructed, and module analysis was performed. Next, miRNA-hub gene regulatory network and TF-hub gene regulatory network were constructed and analyzed. Finally, diagnostic values of hub genes were assessed by by receiver operating characteristic (ROC) curve analysis. By performing DEGs analysis, total 958 DEGs ( 479 up regulated genes and 479 down regulated genes) were successfully identified from GSE180313, respectively. GO and REACTOME pathway enrichment analyses revealed that GO functions and signaling pathways were significantly enriched including response to stimulus, multicellular organismal process, metabolism and extracellular matrix organization. The hub genes of FN1, SOX2, TUBA4A, RPS2, TUBA1C, ESR1, SNCA, LCK, PAK1 and APLNR might be associated with HCM. The hub gens of FN1 and TPM3, together with corresponding predicted miRNAs (e.g., hsa-mir-374a-5p and hsa-miR-8052), and SH3KBP1 and ESR1 together with corresponding predicted TFs (e.g PRRX2 and STAT3) were found to be significantly correlated with HCM. This investigation could serve as a basis for further understanding the molecular pathogenesis and potential therapeutic targets of HCM.

show abstract

Association of maternal hypertension and diabetes with variants of the NKX2-5, LEFTY1 and LEFTY2 genes in children with congenital heart defects: a case-control study from Pakistani Population

Cited by 3 publications

References 22 publications

Genetic Risk Score Constructed from Polymorphisms in the VEGFA, TBX5, and SMAD7 Genes Provides Novel Insights into the Molecular Mechanisms of the Tetralogy of Fallot and Ventricular Septal Defect (Case-Control Study from the Pakistani Population)

Genetic Risk Score Constructed from Polymorphisms in the VEGFA, TBX5, and SMAD7 Genes Provides Novel Insights into the Molecular Mechanisms of the Tetralogy of Fallot and Ventricular Septal Defect (Case-Control Study from the Pakistani Population)

Global research landscape on the genetics of congenital heart disease: A bibliometric and visualized analysis via VOSviewer and CiteSpace

Identification of novel key genes and signaling pathways in hypertrophic cardiomyopathy: evidence from bioinformatics and next generation sequencing data analysis

Contact Info

Product

Resources

About