Genetic predisposition for vitamin D deficiency is not associated with adverse outcome of very low birth weight infants: A cohort study from the German Neonatal Network

PLoS One. 2020 Mar 31;15(3):e0230426. doi: 10.1371/journal.pone.0230426. eCollection 2020.


Objective: Postnatal vitamin D supplementation is standard of care in neonates and preterm infants. Despite routine supplementation of vitamin D, a wide range of complications related to vitamin D deficiency has been described in the literature. Since standard vitamin D supplementation might be not sufficient in preterm infants with a genetic predisposition for vitamin D deficiency, we investigated the outcome of preterm infants with regard to their genetic estimated vitamin D levels.

Methods: Preterm infants with a birth weight below 1500 grams were included in the German Neonatal Network at the time of their birth and tested at the age of five. The vitamin D level was genetically calculated based on three single nucleotide polymorphisms (SNPs: rs12794714, rs7944926 and rs2282679) which alter vitamin D synthesis pathways. Specific alleles of these polymorphisms are validated markers for low plasma vitamin D levels. Outcome data were based on baseline data at the time of birth, typical complications of prematurity, body measurements at the age of five and occurrence of bone fractures. T-test and Fisher's exact test were used for statistical comparison.

Results: According to their genetic predisposition, 1,924 preterm infants were divided into groups of low (gsVitD < 20. Percentile), intermediate and high vitamin D level estimates. Low genetic vitamin D level estimates could not be shown to be associated with any adverse outcome measures examined. The analyses covered data on aforementioned determinants.

Conclusion: Low genetic vitamin D level estimates could not be shown to be associated with previously described adverse outcome in preterm infants.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Birth Weight / physiology
  • Cohort Studies
  • Dietary Supplements
  • Female
  • Fractures, Bone
  • Genetic Predisposition to Disease*
  • Humans
  • Infant
  • Infant, Newborn
  • Infant, Premature / growth & development
  • Infant, Premature / metabolism
  • Infant, Very Low Birth Weight / growth & development
  • Infant, Very Low Birth Weight / metabolism*
  • Male
  • Vitamin D / genetics
  • Vitamin D / metabolism*
  • Vitamin D Deficiency / genetics*
  • Vitamin D Deficiency / metabolism


  • Vitamin D

Grants and funding

This study was funded by the German Federal Ministry of Education and Research (GNN, BMBF 01ER0805 and BMBF 01ER1501). Head of the study: Prof. Dr. Wolfgang Göpel. The funders had a say in study design, data collection and analysis, decision to publish, or preparation of the manuscript in accordance with the guidelines of BMBF.