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Association of vitamin D receptor gene FokI and TaqI polymorphisms and risk of RDS

Nuran Ustun1, Nilnur Eyerci2, Nilgun Karadag1

  • 1Department of Neonatology, Dr Sami Ulus Maternity and Children's Training and Research Hospital, Ankara, Turkey.

The Journal of Maternal-Fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians
|February 15, 2019
PubMed

Insights

Genetic variations in the Vitamin D Receptor (VDR) TaqI gene are linked to an increased risk of respiratory distress syndrome (RDS) in preterm infants. Lower vitamin D levels were also observed in infants with RDS.

Area of Science:

  • Perinatal Medicine
  • Genetics
  • Neonatology

Background:

  • Vitamin D and its receptor (VDR) play crucial roles in fetal lung maturation.
  • Genetic variations in VDR may influence susceptibility to respiratory conditions in newborns.

Purpose of the Study:

  • To investigate the association between VDR FokI and TaqI polymorphisms and the development of respiratory distress syndrome (RDS) in preterm infants.
  • To examine the relationship between serum 25-hydroxyvitamin D (25-OHD) levels and RDS in this population.

Main Methods:

  • Genotyping of VDR FokI and TaqI polymorphisms using real-time PCR in 173 preterm infants (<34 weeks).
  • Measurement of serum 25-OHD levels via ELISA.
  • Statistical analysis including univariate and multivariate logistic regression.

Main Results:

  • VDR TaqI CT and CC genotypes were significantly associated with an increased risk of RDS (OR=3.264, OR=5.222).
  • The VDR TaqI variant genotype remained a risk factor for RDS in multivariate analysis, independent of gestational age, birth weight, and gender.
  • Infants with RDS exhibited significantly lower serum 25-OHD levels compared to controls (p=0.002).

Conclusions:

  • This study is the first to report an association between VDR polymorphism and RDS development in preterm neonates.
  • VDR TaqI polymorphism may contribute to the predisposition of premature infants to RDS.
  • Further research is warranted to elucidate the role of vitamin D and VDR signaling in RDS pathogenesis.

Keywords:
Preterm infantsRDSsingle-nucleotide polymorphismvitamin Dvitamin D receptor (VDR) gene

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