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

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  • Additional Information
    • Source:
      Publisher: Nature Pub. Group Country of Publication: England NLM ID: 100953417 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5470 (Electronic) Linking ISSN: 14664879 NLM ISO Abbreviation: Genes Immun Subsets: MEDLINE
    • Publication Information:
      Original Publication: Houndmills, Basingstoke, Hampshire, UK : Nature Pub. Group,
    • Subject Terms:
      Polymorphism, Single Nucleotide*; Cholestanetriol 26-Monooxygenase/*genetics ; Chromosomes, Human, Pair 11/*genetics ; Cyclic Nucleotide Phosphodiesterases, Type 3/*genetics ; Genome, Human/*genetics ; Vitamin D/*blood; Adolescent ; Child ; Chromosomes, Human, Pair 7/genetics ; Cohort Studies ; Cytochrome P450 Family 2 ; DNA Replication/genetics ; Female ; Follow-Up Studies ; Gene Frequency ; Genotype ; Humans ; Male ; Neuropeptide Y/genetics ; Pregnancy ; Signal Transduction/genetics ; Western Australia
    • 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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    • Accession Number:
      0 (Neuropeptide Y)
      1406-16-2 (Vitamin D)
      EC 1.14.14.1 (Cytochrome P450 Family 2)
      EC 1.14.14.24 (CYP2R1 protein, human)
      EC 1.14.15.15 (Cholestanetriol 26-Monooxygenase)
      EC 3.1.4.17 (Cyclic Nucleotide Phosphodiesterases, Type 3)
      EC 3.1.4.17 (PDE3B protein, human)
    • Publication Date:
      Date Created: 20140912 Date Completed: 20150724 Latest Revision: 20220316
    • Publication Date:
      20221213
    • Accession Number:
      10.1038/gene.2014.52
    • Accession Number:
      25208829