Genetic Variant Screening and Association Study of NKX2-5 in Congenital Heart Disease Patients from North India

first_page Download PDF settings Order Article Reprints Font Type: Arial Georgia Verdana Font Size: Aa Aa Aa Line Spacing:    Column Width:    Background: Open AccessAbstract Genetic Variant Screening and Association Study of NKX2-5 in Congenital Heart Disease Patients from North India † by Shadab AhamadShadab Ahamad SciProfiles Scilit Preprints.org Google Scholar 1,*, Prachi KukshalPrachi Kukshal SciProfiles Scilit Preprints.org Google Scholar 1, Ajay KumarAjay Kumar SciProfiles Scilit Preprints.org Google Scholar 1 and Subramanian ChellappanSubramanian Chellappan SciProfiles Scilit Preprints.org Google Scholar 2 1 Sri Sathya Sai Sanjeevani Research Foundation, Palwal 121102, Haryana, India 2 Sri Sathya Sai Sanjeevani International Centre for Child Heart Care & Research, Palwal 121102, Haryana, India * Author to whom correspondence should be addressed. † Presented at the 3rd International Electronic Conference on Biomolecules, 23–25 April 2024; Available online: https://sciforum.net/event/IECBM2024. Proceedings 2024, 103(1), 8; https://doi.org/10.3390/proceedings2024103008 Published: 12 April 2024 Download keyboard_arrow_down Download PDF Download PDF with Cover Download XML Download Epub Versions Notes Keywords: congenital heart disease; NKX2-5; sanger sequencing; north India; genetic variant; case-control association Background: Globally, 1% of all live births are affected by some form of congenital heart defects (CHDs). Genetics and the environment both play a role in its causation, but very few of these aspects have been explored in the Indian subcontinent. One of the first and key transcription factors required for the formation of the heart during fetal development is NKX2-5. Several mutations in this gene have been identified for CHDs. In this study, we screened for known and novel variants to understand their role in CHDs.Methods: Two exons and flanking 3′ and 5′ UTR regions of NKX2-5 were sequenced in n= 71 CHD cases, followed by a case–control test of association and a haplotype study.Results: Only three known variants, namely rs2277923 (c.63A>G), rs3729753 (c.606G>C), and rs703752 (c.61G>T), were identified in a total of n= 69 cases. The case–control test of association revealed no significant allelic or haplotypic association. A genotypic association was observed for rs703752 in a recessive model (χ2 = 4.47; p = 0.03; risk score = 0.33), along with a trend of association for rs3729753 (χ2 = 3.73; p = 0.053; risk score = 1.68) and rs703752 (p = 0.08).Discussion: Although we did not identify any new mutations in the coding regions of NKX2-5 gene, our findings are important observations for establishing an association between NKX2-5 variants and cardiac defects in the context of the north Indian population. There is a need to explore the roles of other transcription factors and cardiac developmental pathways and establish their interaction and role in disease biology in the Indian subcontinent. Author ContributionsConceptualization, S.A. and P.K.; methodology, S.A.; software, S.A.; validation, S.A. and P.K.; formal analysis, S.A.; investigation, S.A.; resources, A.K. and S.C.; data curation, S.A.; writing—original draft preparation, S.A.; writing—review and editing, P.K.; visualization, S.A.; supervision, P.K.; project administration, P.K.; funding acquisition, P.K. All authors have read and agreed to the published version of the manuscript.FundingThis research received no external funding.Institutional Review Board StatementThe study was conducted in accordance with the Declaration of Helsinki, and approved by the Institutional Ethics Committee of SRI SATHYA SAI SANJEEVANI RESEARCH FOUNDATION, Palwal, Haryana (protocol code: PSR00007/1/IEC/2/2019 and date of approval: 15 November 2019). Informed Consent StatementInformed consent was obtained from all subjects involved in the study.Data Availability StatementThe datasets used and/or analysed during the study are available from the corresponding author upon reasonable request.Conflicts of InterestThe authors declare no conflict of interest.Disclaimer/Publisher's Note: The statements, opinions and data contained in all publications are solely those of the individual author(s) and contributor(s) and not of MDPI and/or the editor(s). MDPI and/or the editor(s) disclaim responsibility for any injury to people or property resulting from any ideas, methods, instructions or products referred to in the content. © 2024 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). Share and Cite MDPI and ACS Style Ahamad, S.; Kukshal, P.; Kumar, A.; Chellappan, S. Genetic Variant Screening and Association Study of NKX2-5 in Congenital Heart Disease Patients from North India. Proceedings 2024, 103, 8. https://doi.org/10.3390/proceedings2024103008 AMA Style Ahamad S, Kukshal P, Kumar A, Chellappan S. Genetic Variant Screening and Association Study of NKX2-5 in Congenital Heart Disease Patients from North India. Proceedings. 2024; 103(1):8. https://doi.org/10.3390/proceedings2024103008 Chicago/Turabian Style Ahamad, Shadab, Prachi Kukshal, Ajay Kumar, and Subramanian Chellappan. 2024. "Genetic Variant Screening and Association Study of NKX2-5 in Congenital Heart Disease Patients from North India" Proceedings 103, no. 1: 8. https://doi.org/10.3390/proceedings2024103008 Article Metrics No No Article Access Statistics Multiple requests from the same IP address are counted as one view.