التفاصيل البيبلوغرافية
| العنوان: |
Genetic studies in the Pakistani population reveal novel associations with ventricular septal defects (VSDs) |
| المؤلفون: |
Sarwar, Sumbal, Shabana, Sajjad, Khadija, Hasnain, Shahida |
| المساهمون: |
Higher Education Commision, Pakistan |
| المصدر: |
BMC Pediatrics ; volume 23, issue 1 ; ISSN 1471-2431 |
| بيانات النشر: |
Springer Science and Business Media LLC |
| سنة النشر: |
2023 |
| مصطلحات موضوعية: |
Pediatrics, Perinatology and Child Health |
| الوصف: |
Background With prevalence up to 4%, Ventricular Septal Defect (VSD) is one of the leading causes of neonatal deaths. VSD is a common complex genetic disorder that has been associated with many genetic determinants. Variants from genes for the transcription factors including T-Box TBX5 and NFATc1 (nuclear factor of activated T cells, cytoplasmic 1), Vascular endothelial growth factor ( VEGF ), ISLET1 (encoded by the ISL1 gene) and enzyme MTHFR , a methylene tetrahydrofolate reductase were selected. Genetic risk score (GRS) is a widely accepted approach used to convert the genetic data into prediction and assessment tool for disease susceptibility. Methods A total of 200 participants were recruited for the current study, 100 VSD patients and 100 controls. Genotyping of the ISL1 : rs1017, NFATc1 : rs7240256, VEGF : rs36208048, TBX5 : rs11067075, and MTHFR : rs1801133 variants was performed using tetra primer ARMS PCR and PCR-RFLP. For the statistical analysis, the software SPSS version 23 was used. Genotypic frequencies of cases and controls were calculated using chi-square (χ²) whereas allelic frequencies were calculated by using the SNPStats tool. The association of GRS quartiles with VSD was examined using binary logistic regression. Adjusted p -value 0.01 was used as significance threshold for all analyses. Results The ISL1 (OD: 0.242, CI: 0.158–0.37, p- value: 2.15 × 10 − 4 :), NFATc1 (OD: 2.53, CI: 1.64–3.89, p- value: 2.11 × 10 − 5 ), TBX5 (OD: 2.24, CI: 1.47–3.41, p- value:1.6 × 10 − 4 ) and MTHFR (OD: 10.46, CI: 5.68–19.26, p- value: 2.09 × 10 − 9 :) variants were found to be in association with VSD. In contrast, the VEGF (OD: 0.952, CI: 0.56–1.62, p- value: 0.8921) variant did not show significance association with the VSD. For cases, the mean GRS score was 3.78 ± 1.285 while in controls it was 2.95 ± 1.290 ( p- value: 0.479, CI: 0.474–1.190). Comparison of GRS between cases and control showed that mean GRS of cases was 1.90 ± 0.480 while in controls it was 1.68 ± 0.490 ( p- value: 0.001, CI: ... |
| نوع الوثيقة: |
article in journal/newspaper |
| اللغة: |
English |
| DOI: |
10.1186/s12887-023-03851-3 |
| DOI: |
10.1186/s12887-023-03851-3.pdf |
| DOI: |
10.1186/s12887-023-03851-3/fulltext.html |
| الإتاحة: |
https://doi.org/10.1186/s12887-023-03851-3Test |
| حقوق: |
https://creativecommons.org/licenses/by/4.0Test ; https://creativecommons.org/licenses/by/4.0Test |
| رقم الانضمام: |
edsbas.94499029 |
| قاعدة البيانات: |
BASE |
