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Zenodo
2025
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| Online Access: | https://doi.org/10.5281/zenodo.17512200 |
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| author | Hidayat, Taufiq Irwanto, Irwanto Rohman, Ali Triambodo, Bagas Muhyiddin, Afrizal Alif Azzam Rahman, Mahrus A. Utamayasa, IKA Fajar, Nur Syamsiatul Amin, Mochamad Imanina, Shabrina Nur Heriqbaldi, Ayurveda Zaynabila |
| author_facet | Hidayat, Taufiq Irwanto, Irwanto Rohman, Ali Triambodo, Bagas Muhyiddin, Afrizal Alif Azzam Rahman, Mahrus A. Utamayasa, IKA Fajar, Nur Syamsiatul Amin, Mochamad Imanina, Shabrina Nur Heriqbaldi, Ayurveda Zaynabila |
| 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> |
| format | Recurso digital |
| id | zenodo_https___doi_org_10_5281_zenodo_17512200 |
| institution | Zenodo |
| language | |
| publishDate | 2025 |
| publisher | Zenodo |
| record_format | zenodo |
| spellingShingle | Association of GATA4 and NKX2-5 Polymorphisms with Ventricular Septal Defect in Indonesian Children: A Case-Control Study at a Tertiary Care Hospital Hidayat, Taufiq Irwanto, Irwanto Rohman, Ali Triambodo, Bagas Muhyiddin, Afrizal Alif Azzam Rahman, Mahrus A. Utamayasa, IKA Fajar, Nur Syamsiatul Amin, Mochamad Imanina, Shabrina Nur Heriqbaldi, Ayurveda Zaynabila <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> |
| title | Association of GATA4 and NKX2-5 Polymorphisms with Ventricular Septal Defect in Indonesian Children: A Case-Control Study at a Tertiary Care Hospital |
| url | https://doi.org/10.5281/zenodo.17512200 |