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.
Acknowledgments
We thank the families who participated in this study, along with the research nurses and research assistants who undertook recruitment and data entry.
Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.
Research funding: We acknowledge support from the Australian National Health and Medical Research Council (NHMRC), Financial Markets Foundation for Children, Diabetes Australia Research Trust, the Australian Research Council (ARC), Arthritis Australia, Rebecca L Cooper Foundation, Lew Carty Charitable Fund, ANZ Medical Research and Technologies in Victoria Fund, Lynne Quayle Charitable Trust, The Victorian State Government Operational Infrastructure Support Program, and the Murdoch Childrens Research Institute. CS was supported by a NHMRC Early Career Fellowship. ALP was supported by a NHMRC Senior Research Fellowship. JAE was supported by an ARC Future Fellowship.
Employment or leadership: None declared.
Honorarium: None declared.
Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.
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