title: 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.
authors.affiliation: Telethon Kids Institute, The University of Western Australia, Subiaco, Western Australia, Australia.
authors.forename: D
authors.initials: D
authors.lastname: Anderson
authors.affiliation: Telethon Kids Institute, The University of Western Australia, Subiaco, Western Australia, Australia.
authors.forename: B J
authors.initials: BJ
authors.lastname: Holt
authors.affiliation: School of Women's and Infants' Health, The University of Western Australia, Perth, Western Australia, Australia.
authors.forename: C E
authors.initials: CE
authors.lastname: Pennell
authors.affiliation: Telethon Kids Institute, The University of Western Australia, Subiaco, Western Australia, Australia.
authors.forename: P G
authors.initials: PG
authors.lastname: Holt
authors.affiliation: Telethon Kids Institute, The University of Western Australia, Subiaco, Western Australia, Australia.
authors.forename: P H
authors.initials: PH
authors.lastname: Hart
authors.affiliation: Telethon Kids Institute, The University of Western Australia, Subiaco, Western Australia, Australia.
authors.forename: J M
authors.initials: JM
authors.lastname: Blackwell
mesh_terms: D000293:Adolescent; D002648:Child; D053493:Cholestanetriol 26-Monooxygenase / Q000235:genetics*; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics*; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics; D015331:Cohort Studies; D054684:Cyclic Nucleotide Phosphodiesterases, Type 3 / Q000235:genetics*; D000072467:Cytochrome P450 Family 2; D004261:DNA Replication / Q000235:genetics; D005260:Female; D005500:Follow-Up Studies; D005787:Gene Frequency; D015894:Genome, Human / Q000235:genetics*; D005838:Genotype; D006801:Humans; D008297:Male; D009478:Neuropeptide Y / Q000235:genetics; D020641:Polymorphism, Single Nucleotide; D011247:Pregnancy; D015398:Signal Transduction / Q000235:genetics; D014807:Vitamin D / Q000097:blood*; D014904:Western Australia
chemical_list: D009478:Neuropeptide Y; D014807:Vitamin D; D000072467:Cytochrome P450 Family 2; C506833:CYP2R1 protein, human; D053493:Cholestanetriol 26-Monooxygenase; D054684:Cyclic Nucleotide Phosphodiesterases, Type 3; C517291:PDE3B protein, human