Genetic Contributions to Maternal and Neonatal Vitamin D Levels.

Publication date: Feb 11, 2020

Vitamin D is essential for several physiological functions and biological processes. Increasing levels of maternal vitamin D are required throughout pregnancy as a unique source of vitamin D for the fetus, and consequently maternal vitamin D deficiency may result in several adverse outcomes in newborns. However, the genetic regulation of vitamin D in pregnancy and at birth is not yet well understood. We performed genome-wide association studies of maternal mid-gestational serum-derived and neonatal bloodspot-derived total 25-hydroxyvitamin D from a case-control study of autism spectrum disorder (ASD). We identified one fetal locus (rs4588) significantly associated with neonatal vitamin D levels in the GC gene, encoding the binding protein for the transport and function of vitamin D. We also found suggestive cross-associated loci for neonatal and maternal vitamin D near immune genes, such as CXCL6-IL8 and ACKR1 We found no interactions with ASD. However, when including a set of cases with intellectual disability but not ASD (N=179), we observed a suggestive interaction between decreased levels of neonatal vitamin D and a specific maternal genotype near the PKN2 gene. Our results suggest that genetic variation influences total vitamin D levels during pregnancy and at birth via proteins in the vitamin D pathway, but also potentially via distinct mechanisms involving loci with known roles in immune function that might be involved in vitamin D pathophysiology in pregnancy.

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Traglia, M., Windham, G.C., Pearl, M., , Poon, Eyles, D., Jones, K.L., Lyall, K., Kharrazi, M., Croen, L.A., and Weiss, L.A. Genetic Contributions to Maternal and Neonatal Vitamin D Levels. 15229. 2020 Genetics.

Concepts Keywords
Autism Spectrum Disorder Vitamin E
Cross Vitamin deficiency
Fetal Nutrition
Fetus Vitamin D
Gene Psychiatric diagnosis
Genetic Regulation Obstetrics
Genetic Variation Biomolecules
Genome RTT
Genotype Organic compounds
IL8 Health
Intellectual Disability Branches of biology
Loci Genotype
Locus SNP
Neonatal Vitamin C


Type Source Name
drug DRUGBANK Vitamin D
disease MESH fetus
disease MESH vitamin D deficiency
disease MESH autism spectrum disorder
disease MESH intellectual disability
disease MESH autism
disease MESH development

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