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| Main Authors: | , , , , , , , , , , |
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| Format: | Recurso digital |
| Language: | |
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Zenodo
2025
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| Online Access: | https://doi.org/10.5281/zenodo.17512200 |
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Table of Contents:
- <p><strong><span lang="EN">Background:</span></strong><span lang="EN"> Ventricular septal defect (VSD) is the most common congenital heart disease (CHD). Transcription factors NKX2-5 and GATA4 regulate cardiac septation, and their variants are linked to CHD. However, studies from South East Asia especially in Indonesia are still limited. </span></p> <p><span lang="EN"><strong>Methods:</strong> We conducted a hospital-based case-control study at tertiary pediatric cardiology center in Indonesia including 55 children with ventricular septal defect and 55 controls. Continuous characteristics were compared with Mann-Whitney U test. For each gene, two by two analyses compared the proportion with polymorphism between groups using Fisher exact tests, reporting odds ratios and 95% confidence intervals when estimable. Multiple testing across genes was adjusted using the false discovery rate (q=0.05). </span></p> <p><span lang="EN"><strong>Results:</strong> Gene-level variant detection rates were uncommon across loci, ranging from 0.00 to 5.45 percent. No gene showed a statistically significant difference between cases and controls after false discovery rate correction. These findings should be interpreted as inconclusive rather than definitively negative. </span></p> <p><span lang="EN"><strong>Conclusion:</strong> Gene-level polymorphism in GATA4 and NKX2-5 was not associated with VSD in Indonesia. Larger studies with SNP level genotyping and adjusted models are required.</span></p>