| Autor: |
Wesam A. Mokhtar, Amal Fawzy, Reem M. Allam, Rania M. Amer, Mona S. Hamed |
| Jazyk: |
angličtina |
| Rok vydání: |
2019 |
| Předmět: |
|
| Zdroj: |
Genes and Diseases, Vol 6, Iss 2, Pp 193-200 (2019) |
| Druh dokumentu: |
article |
| ISSN: |
2352-3042 |
| DOI: |
10.1016/j.gendis.2018.08.001 |
| Popis: |
Vitamin D & vitamin D receptor (VDR) signaling play a very crucial role in early embryonic heart development. We construct this case-control study to investigate the association between maternal serum vitamin D level & VDR gene Fok1 polymorphism and risk of congenital heart defects (CHD) in offspring. Fifty mothers who had term neonates with CHD were considered as cases. Fifty age-comparable healthy mothers who had neonates without CHD were contemplated as controls. Maternal serum 25 hydroxyvitamin D [25(OH) D] level was tested using ELISA. Maternal VDR gene Fok1 polymorphism was analyzed using PCR-based RFLP-assay. There was a significant decrease in maternal vitamin D level (P = 0.002) and a significant increase in vitamin D deficient status (P = 0.007) among cases when compared to controls. VDR gene Fok1 genotypes distribution frequency were in accordance with Hardy Weinberg equilibrium (HW) among controls. A significant increase in VDR gene Fok1 F/f & f/f genotypes and f allele were observed in cases compared to controls with estimated odds ratio (95% confidence interval) & P-value of 3 (1–8) & P = 0.006, 11 (1–97) & P = 0.01 and 3 (2–6) & P = 0.001 respectively. There was a significant decrease in maternal vitamin D level in neonates with cyanotic CHD (P = 0.000) compared to those with a cyanotic CHD while there was no significant difference in VDR Fok1 genotype (P = 0.18) & allele (P = 0.05) distribution between two groups. We concluded that maternal vitamin D deficiency and VDR gene Fok1 F/f, f/f genotype and f allele were associated with increased risk of CHD in offspring. Keywords: Congenital heart disease, FoK1 polymorphism, Vitamin D, Vitamin D receptor gene, Maternal vitamin D |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
|
