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Journal of Environmental Biology

pISSN: 0254-8704 ; eISSN: 2394-0379 ; CODEN: JEBIDP
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    Abstract - Issue Jul 2026, 47 (4)                                     Back


nstantaneous and historical temperature effects on a-pinene

Genetic and pathway analysis of ventricular septal defect: A comprehensive study

 

K. Lalitha Sree*, S. Marepalli1, C.R.S. Reddy1, K. Dileep2 and S. Vasishta3     

1Department of Pathology, Apollo Institute of Medical Sciences and Research Chittoor, Murukambattu-517 127, India

2Department of Radiodiagnosis, Apollo Institute of Medical Sciences and Research Chittoor, Murukambattu - 517 127, India

3Department of Biochemistry, Apollo Institute of Medical Sciences and Research Chittoor, Murukambattu - 517 127, India

 

Received: 29 November 2025                   Revised: 04 May 2026                   Accepted: 20 May 2026

*Corresponding Author Email: lalithasree_k@aimsrchittoor.edu.in                  *ORCiD: https://orcid.org/0009 0005 2043 9410

 

 

 

Abstract

 

Aim: Ventricular septal defect (VSD) is the most prevalent congenital cardiac malformation, yet its molecular and genetic determinants remain incompletely understood. This study aimed to elucidate the genetic contributors and biological pathways implicated in VSD pathogenesis.

Methodology: Thirty genes most strongly associated with VSD were retrieved from DisGeNET. Gene Ontology (GO) enrichment was performed across biological process, cellular component and molecular function categories. Pathway enrichment utilised WikiPathways, whilst metabolite and drug interaction profiling employed HMDB and DrugMatrix platforms. Tissue-specific and subcellular analyses were conducted via Jensen database resources, with all computations performed in R (v4.4.2).

Results: GO enrichment highlighted terms encompassing cardiac developmental biology, morphogenetic architecture and transcriptional regulation. WikiPathways analysis revealed significant enrichment for heart development (p = 1.58 × 10-15) and cardiac progenitor differentiation (p = 1.46 × 10-8), with TBX1, TBX5, GATA4 and NKX2-5 identified as central contributors. Tissue profiling confirmed pronounced cardiac-specific enrichment, and metabolite-drug screening identified associations with Simvastatin and Losartan.

Interpretation: These findings delineate the genetic landscape and molecular circuitry underlying VSD, underscoring critical roles of cardiac developmental genes and regulatory networks. Such insights may inform future therapeutic strategies and risk stratification for this common congenital anomaly.

Key words: Congenital heart disease, Cardiac development, Genetic pathways, Transcriptional regulation, Ventricular septal defect

 

 

 

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