Genome-Wide Association Study of Circulating Vitamin D Levels

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Genome-Wide Association Study of Circulating Vitamin D Levels

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Title: Genome-Wide Association Study of Circulating Vitamin D Levels
Author: Ahn, Jiyoung; Yu, Kai; Stolzenberg-Solomon, Rachael; McCullough, Marjorie L.; Gallicchio, Lisa; Jacobs, Eric J.; Helzlsouer, Kathy; Jacobs, Kevin B.; Li, Qizhai; Weinstein, Stephanie J.; Purdue, Mark; Virtamo, Jarmo; Horst, Ronald; Chanock, Stephen; Hayes, Richard B.; Kraft, Peter; Albanes, Demetrius; Simon, Kelly Claire; Ascherio, Alberto B.; Wheeler, William; Hunter, David J.

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Citation: Ahn, Jiyoung, Kai Yu, Rachael Stolzenberg-Solomon, K. Claire Simon, Marjorie L. McCullough, Lisa Gallicchio, Eric J. Jacobs, et al. 2010. Genome-wide association study of circulating vitamin D levels. Human Molecular Genetics 19(13): 2739-2745.
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Abstract: The primary circulating form of vitamin D, 25-hydroxy-vitamin D [25(OH)D], is associated with multiple medical outcomes, including rickets, osteoporosis, multiple sclerosis and cancer. In a genome-wide association study (GWAS) of 4501 persons of European ancestry drawn from five cohorts, we identified single-nucleotide polymorphisms (SNPs) in the gene encoding group-specific component (vitamin D binding) protein, GC, on chromosome 4q12-13 that were associated with 25(OH)D concentrations: rs2282679 (P = 2.0 × 10\(^{−30}\)), in linkage disequilibrium (LD) with rs7041, a non-synonymous SNP (D432E; P = 4.1 × 10\(^{−22}\)) and rs1155563 (P = 3.8 × 10\(^{−25}\)). Suggestive signals for association with 25(OH)D were also observed for SNPs in or near three other genes involved in vitamin D synthesis or activation: rs3829251 on chromosome 11q13.4 in NADSYN1 [encoding nicotinamide adenine dinucleotide (NAD) synthetase; P = 8.8 × 10\(^{−7}\)], which was in high LD with rs1790349, located in DHCR7, the gene encoding 7-dehydrocholesterol reductase that synthesizes cholesterol from 7-dehydrocholesterol; rs6599638 in the region harboring the open-reading frame 88 (C10orf88) on chromosome 10q26.13 in the vicinity of ACADSB (acyl-Coenzyme A dehydrogenase), involved in cholesterol and vitamin D synthesis (P = 3.3 × 10\(^{−7}\)); and rs2060793 on chromosome 11p15.2 in CYP2R1 (cytochrome P450, family 2, subfamily R, polypeptide 1, encoding a key C-25 hydroxylase that converts vitamin D3 to an active vitamin D receptor ligand; P = 1.4 × 10\(^{−5}\)). We genotyped SNPs in these four regions in 2221 additional samples and confirmed strong genome-wide significant associations with 25(OH)D through meta-analysis with the GWAS data for GC (P = 1.8 × 10\(^{−49}\)), NADSYN1/DHCR7 (P = 3.4 × 10\(^{−9}\)) and CYP2R1 (P = 2.9 × 10\(^{−17}\)), but not C10orf88 (P = 2.4 × 10\(^{−5}\)).
Published Version: doi:10.1093/hmg/ddq155
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