Maternal Vitamin D level and Vitamin D receptor gene polymorphism as a risk factor for Congenital Heart Diseases in off spring; An Egyptian case-control study

Publication date: Available online 26 August 2018Source: Genes & DiseasesAuthor(s): Wesam A. Mokhtar, Amal Fawzy, Reem M. Allam, Rania M. Amer, Mona S. HamedAbstractVitamin 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 sig...
Source: Genes and Diseases - Category: Genetics & Stem Cells Source Type: research