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Association between vitamin D plasma concentrations and VDR gene variants and the risk of premature birth

Letícia Veríssimo Dutra1, Fernando Alves Affonso-Kaufman2, Fernanda Ramires Cafeo2

  • 1Postgraduation Program in Health Sciences, Faculdade de Medicina do ABC, Santo Andre, Brazil.

BMC Pregnancy and Childbirth
|January 2, 2020
PubMed

Insights

Vitamin D deficiency in mothers is linked to premature birth. Specific vitamin D receptor (VDR) gene variants increase this risk, impacting vitamin D levels in mothers and newborns.

Area of Science:

  • Genetics
  • Obstetrics
  • Endocrinology

Background:

  • Premature birth is a leading cause of infant mortality.
  • Maternal vitamin D deficiency is associated with prematurity.
  • Vitamin D receptor (VDR) gene variants may influence prematurity risk.

Purpose of the Study:

  • To investigate the association between VDR gene variants and vitamin D levels in mothers and newborns.
  • To determine the frequency of specific VDR variants in mothers of preterm (PTN) and full-term (FTN) infants.

Main Methods:

  • Case-control study involving 40 mother-PTN pairs and 92 mother-FTN pairs.
  • Genotyping of VDR variants (TaqI, BsmI, ApaI, FokI) using real-time PCR.
  • Measurement of serum vitamin D concentrations via electrochemiluminescence.

Main Results:

  • Lower vitamin D levels were observed in PTN mothers and PTNs.
  • Specific VDR genotypes (TaqI/GG, BsmI/TT, ApaI/AA, FokI/GG) and haplotypes were more frequent in PTN mothers and PTNs.
  • Certain VDR genotypes were associated with lower vitamin D levels and increased risk of preterm birth.

Conclusions:

  • VDR gene variants play a role in vitamin D concentration variability.
  • Specific VDR variants are associated with an increased risk of prematurity.
Abstract

Keywords:
Genetic variant; Vitamin D; Premature birth; gestation; newborns.

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