Environmental and genetic determinants of two vitamin D metabolites in healthy Australian children

J Pediatr Endocrinol Metab. 2017 May 1;30(5):531-541. doi: 10.1515/jpem-2016-0088.

Abstract

Background: Vitamin D deficiency has been associated with adverse health outcomes. We examined genetic and environmental determinants of serum 25(OH)D3 and 1,25(OH)2D3 in childhood.

Methods: The study sample consisted of 322 healthy Australian children (predominantly Caucasians) who provided a venous blood sample. A parental interview was conducted and skin phototype and anthropometry measures were assessed. Concentrations of 25(OH)D3 and 1,25(OH)2D3 were measured by selective solid-phase extraction-capillary liquid chromatography-tandem mass spectrometry. These concentrations were deseasonalised where relevant to remove the effect of month of sampling.

Results: Deseasonalised log 25(OH)D3 and 1,25(OH)2D3 concentrations were only moderately correlated (r=0.42, p<0.001). The following predicted both 25(OH)D3 and 1,25(OH)2D3: UVR 6 weeks before the interview, natural skin and eye colour, height and vitamin D allelic metabolism score. The following predicted 25(OH)D3 only: lifetime sunburns and vitamin D allelic synthesis score. Overall, 43.5% and 25.6% of variation in 25(OH)D3 and 1,25(OH)2D3 could be explained. After accounting for 25(OH)D3 concentrations, higher UVR 6 weeks before the interview and vitamin D allelic metabolism score further predicted 1,25(OH)2D3 concentrations.

Conclusions: Environmental factors and genetic factors contributed to both vitamin D metabolite concentrations. The intriguing finding that the higher ambient UVR contributed to higher 1,25(OH)2D3 after accounting for 25(OH)D3 concentrations requires further evaluation.

Keywords: 1,25-dihydroxyvitamin D3; allelic score; determinants; ultraviolet radiation; vitamin D 25-hydroxyvitamin D3.

MeSH terms

  • Australia / epidemiology
  • Calcifediol / metabolism*
  • Calcitriol / metabolism*
  • Child
  • Environment*
  • Genetic Markers*
  • Humans
  • Polymorphism, Single Nucleotide*
  • Prevalence
  • Vitamin D Deficiency / epidemiology*
  • Vitamin D Deficiency / genetics
  • Vitamin D Deficiency / metabolism
  • Vitamins / metabolism*

Substances

  • Genetic Markers
  • Vitamins
  • Calcitriol
  • Calcifediol