Vitamin D receptor polymorphism FokI is associated with spontaneous idiopathic preterm birth in an Israeli population

Eur J Obstet Gynecol Reprod Biol. 2014 Jun:177:84-8. doi: 10.1016/j.ejogrb.2014.03.008. Epub 2014 Mar 15.

Abstract

Objective: The active form of vitamin D (1,25[OH]2D3) has been established to have potent anti-proliferative, immuno-modulatory, and anti-microbial action in addition to its effects on bone. The nuclear vitamin D receptor (VDR) is expressed in the placenta-decidua, regulating genes associated with implantation and implantation immuno-tolerance. If VDR polymorphisms regulate VDR functionality at the placenta-decidua interface, VDR genotypes may be involved in idiopathic preterm birth (PTB).

Study design: Maternal and fetal (umbilical cord) blood samples from 33 Jewish and Arab mothers with PTB of a singleton neonate were compared to 98 samples from Jewish and Arab maternal and fetal blood samples from full-term, uncomplicated singleton births. Maternal age and ethnicity were comparable between groups. PCR amplification/digestion identified the VDR SNPs: FokI, ApaI, TaqI, and BsmI.

Results: Allele frequency for the FokI VDR in maternal blood samples from preterm births (but not umbilical cord samples) was significantly different (p=0.01) from that in maternal and umbilical cord blood samples from full-term singleton births, with an odds ratio for FokI carriers of 3.317 (95% CI, 1.143, 9.627) for preterm birth. The FokI VDR variant may therefore be a maternal risk trait for PTB among these women.

Conclusion: This study may support a future platform for the study of vitamin D during pregnancy and treatment of selective target populations with vitamin D and/or VDR "tissue-specific therapeutic intervention" for prevention of PTB.

Keywords: Placenta-decidua; Preterm birth; VDR polymorphisms; Vitamin D; Vitamin D receptor (VDR).

MeSH terms

  • Adult
  • Arabs / genetics
  • Case-Control Studies
  • DNA / analysis
  • DNA Mutational Analysis
  • Female
  • Fetal Blood / chemistry
  • Gene Frequency
  • Genotype
  • Humans
  • Israel
  • Jews / genetics
  • Polymorphism, Single Nucleotide*
  • Pregnancy
  • Premature Birth / blood
  • Premature Birth / genetics*
  • Prospective Studies
  • Receptors, Calcitriol / genetics*
  • Term Birth / blood
  • Term Birth / genetics*

Substances

  • Receptors, Calcitriol
  • DNA