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Genome-wide association study of vitamin D levels in children: replication in the Western Australian Pregnancy Cohort (Raine) study

Abstract

This genome-wide association study (GWAS) utilises data from the Western Australian Pregnancy Cohort (Raine) Study for 25-hydroxyvitamin D (25(OH)D) levels measured in blood collected at age 6 years (n=673) and at age 14 years (n=1140). Replication of significantly associated genes from previous GWASs was found for both ages. Genome-wide significant associations were found both at age 6 and 14 with single nucleotide polymorphisms (SNPs) on chromosome 11p15 in PDE3B/CYP2R1 (age 6: rs1007392, P=3.9 × 10−8; age14: rs11023332, P=2.2 × 10−10) and on chromosome 4q13 in GC (age 6: rs17467825, P=4.2 × 10−9; age14: rs1155563; P=3.9 × 10−9). In addition, a novel association was observed at age 6 with SNPs on chromosome 7p15 near NPY (age 6: rs156299, P=1.3 × 10−6) that could be of functional interest in highlighting alternative pathways for vitamin D metabolism in this age group and merits further analysis in other cohort studies.

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Acknowledgements

We are extremely grateful to all the families who took part in this study and the whole Raine Study team, which includes data collectors, cohort managers, data managers, clerical staff, research scientists and volunteers. The Raine Study has been supported by the National Health and Medical Research Council over the last 20 years with funding for core management provided by The University of Western Australia (UWA), Raine Medical Research Foundation, Telethon Kids Institute, UWA Faculty of Medicine, Dentistry and Health Sciences, Women and Infants Research Foundation, Curtin University and Edith Cowan University. The 5-year cohort review was supported by the National Health and Medical Research Council (ID 963209) and The Raine Foundation. The 14-year follow-up was supported by the National Health and Medical Research Council (ID 211912 and ID 003209) and The Raine Foundation. Genome-wide SNP genotyping data generated from samples collected at either the 14- or 17-year follow-ups were supported by the National Health and Medical Research Council (ID 572613).

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Correspondence to J M Blackwell.

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Anderson, D., Holt, B., Pennell, C. et al. Genome-wide association study of vitamin D levels in children: replication in the Western Australian Pregnancy Cohort (Raine) study. Genes Immun 15, 578–583 (2014). https://doi.org/10.1038/gene.2014.52

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