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Association of vitamin D receptor gene polymorphisms and bronchopulmonary dysplasia

Ozge Altun Koroglu1, Huseyin Onay2, Bilin Cakmak1

  • 1Division of Neonatology, Department of Pediatrics, Ege University Faculty of Medicine, Izmir, Turkey.

Pediatric Research
|May 7, 2014
PubMed

Insights

Vitamin D Receptor (VDR) gene Fok I polymorphism is linked to a higher risk of bronchopulmonary dysplasia (BPD) in preterm infants. The Taq I polymorphism showed a protective effect against BPD development.

Area of Science:

  • Neonatal Medicine
  • Genetics
  • Pulmonology

Background:

  • Vitamin D and its receptor (VDR) play crucial roles in the development of the lungs during the perinatal period.
  • Bronchopulmonary dysplasia (BPD) is a significant complication in preterm infants, impacting long-term respiratory health.

Purpose of the Study:

  • To investigate the association between VDR gene polymorphisms and the risk of developing BPD in preterm infants.
  • To identify specific VDR gene variants that may predispose infants to BPD.

Main Methods:

  • Genotyping of VDR Fok I, Bsm I, Apa I, and Taq I polymorphisms using restriction fragment length polymorphism.
  • Study included 109 preterm infants, with 47 diagnosed with BPD and 62 controls.

Main Results:

  • The Fok I (Ff and ff genotypes) polymorphisms were significantly associated with an increased risk of BPD (OR=3.937, P=0.022 and OR=5.23, P=0.004, respectively).
  • The Taq I (tt genotype) polymorphism demonstrated a protective effect against BPD (OR=0.30, P=0.04).
  • Multivariate analysis confirmed that the variant Fok 1 genotype independently increased BPD risk (OR=4.11, P=0.038), while other polymorphisms showed no significant effect.

Conclusions:

  • VDR Fok 1 polymorphism is associated with an increased incidence of BPD in preterm infants, even after adjusting for confounding factors.
  • Further research is warranted to explore the role of VDR signaling in BPD pathogenesis.
  • VDR polymorphisms may potentially serve as biomarkers for identifying high-risk infants for BPD.
Abstract

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