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Vitamin D receptor (VDR) polymorphisms are associated to spontaneous preterm birth and maternal aspects

N Javorski1, C A D Lima1, L V C Silva2

  • 1Department of Genetics, Federal University of Pernambuco, Recife, Pernambuco, Brazil; Laboratory of Immunopathology Keizo Asami (LIKA), Federal University of Pernambuco, Recife, Pernambuco, Brazil.

Gene
|November 13, 2017
PubMed

Insights

Genetic variations in the vitamin D receptor (VDR) gene, specifically FokI and Cdx-2 polymorphisms, are linked to spontaneous preterm birth (SPTB). These VDR gene variants may increase susceptibility to SPTB and related pregnancy complications.

Area of Science:

  • Genetics and Immunology
  • Reproductive Health
  • Perinatology

Background:

  • Spontaneous preterm birth (SPTB) is a leading cause of neonatal mortality, influenced by immunological and genetic factors.
  • Vitamin D plays a crucial role in immune modulation via the vitamin D receptor (VDR), which is overexpressed in the placenta during pregnancy.

Purpose of the Study:

  • To investigate the association between two single nucleotide polymorphisms (SNPs) in the VDR gene (FokI and Cdx-2) and susceptibility to SPTB.
  • To analyze the differential susceptibility to SPTB based on VDR gene polymorphisms in a Northeastern Brazilian population.

Main Methods:

  • Genotyping of VDR SNPs FokI (rs2228570) and Cdx-2 (rs11568820) using TaqMan fluorogenic probes.
  • Comparative analysis of allele and genotype frequencies between 104 women with SPTB and 85 women with normal birth.
  • Statistical assessment of associations between VDR genotypes and clinical/demographic variables.

Main Results:

  • Significant differences in allele and genotype frequencies for both VDR SNPs were observed between SPTB and normal birth groups.
  • The T allele for rs2228570 (FokI) and the A allele for rs11568820 (Cdx-2) were more frequent in the SPTB group (p=0.000013 and p=0.00466, respectively).
  • Specific genotypes (rs11568820 A/A and rs2228570 T/T) were associated with premature birth, neonate weight, pregnancy infections, gestational diabetes mellitus, and chorioamnionitis.

Conclusions:

  • The study indicates a significant association between FokI and Cdx-2 polymorphisms within the VDR gene and spontaneous preterm birth.
  • These VDR gene polymorphisms may play a role in the susceptibility and triggering of spontaneous preterm birth.
  • Further research is warranted to elucidate the precise mechanisms linking VDR gene variations to preterm birth outcomes.

Keywords:
FokI and Cdx-2SNPsSpontaneous preterm birthVDR

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