Maternal vitamin D level and vitamin D receptor gene polymorphism as a risk factor for congenital heart diseases in offspring;An Egyptian case-control study

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(1e8)&P=0.006,11(1e97)&P=0.01 and 3(2e6)&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.