• Editorial
    • Genes & Diseases,Volume , Issue 2,2014, Pages 193-200
    • 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
    • Wesam A.Mokhtar1, AmalFawzy2, Reem M.Allam3, Rania M.Amer4, Mona S.Hamed5
    • 1.Pediatric Department, Faculty of Medicine, Zagazig University, Egypt;2.Medical Biochemistry Department, Faculty of Medicine, Zagazig University, Egypt;3.Clinical Pathology Department, Faculty of Medicine, Zagazig University, Egypt;4.Medical Microbiology and Immunology Department, Faculty of Medicine, Zagazig University, Egypt;5.Public Health and Community Medicine, Faculty of Medicine, Zagazig University, Egypt
    Abstract
    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 diseaseFoK1 polymorphismVitamin DVitamin D receptor geneMaternal vitamin D
    Copyright © 2014 Chongqing Medical University. Published by Elsevier B.V

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    Wesam A.Mokhtar,AmalFawzy,Reem M.Allam,Rania M.Amer,Mona S.Hamed.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[J].Genes & Diseases,2019;(2):193-200.