| http://purl.uniprot.org/citations/20418485 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/20418485 | http://www.w3.org/2000/01/rdf-schema#comment | "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=2.0x10(-30)), in linkage disequilibrium (LD) with rs7041, a non-synonymous SNP (D432E; P=4.1x10(-22)) and rs1155563 (P=3.8x10(-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=8.8x10(-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=3.3x10(-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=1.4x10(-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=1.8x10(-49)), NADSYN1/DHCR7 (P=3.4x10(-9)) and CYP2R1 (P=2.9x10(-17)), but not C10orf88 (P=2.4x10(-5))."xsd:string |
| http://purl.uniprot.org/citations/20418485 | http://purl.org/dc/terms/identifier | "doi:10.1093/hmg/ddq155"xsd:string |
| http://purl.uniprot.org/citations/20418485 | http://purl.uniprot.org/core/author | "Li Q."xsd:string |
| http://purl.uniprot.org/citations/20418485 | http://purl.uniprot.org/core/author | "Yu K."xsd:string |
| http://purl.uniprot.org/citations/20418485 | http://purl.uniprot.org/core/author | "Ahn J."xsd:string |
| http://purl.uniprot.org/citations/20418485 | http://purl.uniprot.org/core/author | "Horst R."xsd:string |
| http://purl.uniprot.org/citations/20418485 | http://purl.uniprot.org/core/author | "Kraft P."xsd:string |
| http://purl.uniprot.org/citations/20418485 | http://purl.uniprot.org/core/author | "Hunter D.J."xsd:string |
| http://purl.uniprot.org/citations/20418485 | http://purl.uniprot.org/core/author | "Hayes R.B."xsd:string |
| http://purl.uniprot.org/citations/20418485 | http://purl.uniprot.org/core/author | "Jacobs K.B."xsd:string |
| http://purl.uniprot.org/citations/20418485 | http://purl.uniprot.org/core/author | "Chanock S."xsd:string |
| http://purl.uniprot.org/citations/20418485 | http://purl.uniprot.org/core/author | "Albanes D."xsd:string |
| http://purl.uniprot.org/citations/20418485 | http://purl.uniprot.org/core/author | "Virtamo J."xsd:string |
| http://purl.uniprot.org/citations/20418485 | http://purl.uniprot.org/core/author | "McCullough M.L."xsd:string |
| http://purl.uniprot.org/citations/20418485 | http://purl.uniprot.org/core/author | "Wheeler W."xsd:string |
| http://purl.uniprot.org/citations/20418485 | http://purl.uniprot.org/core/author | "Weinstein S.J."xsd:string |
| http://purl.uniprot.org/citations/20418485 | http://purl.uniprot.org/core/author | "Ascherio A."xsd:string |
| http://purl.uniprot.org/citations/20418485 | http://purl.uniprot.org/core/author | "Jacobs E.J."xsd:string |
| http://purl.uniprot.org/citations/20418485 | http://purl.uniprot.org/core/author | "Helzlsouer K."xsd:string |
| http://purl.uniprot.org/citations/20418485 | http://purl.uniprot.org/core/author | "Stolzenberg-Solomon R."xsd:string |
| http://purl.uniprot.org/citations/20418485 | http://purl.uniprot.org/core/author | "Gallicchio L."xsd:string |
| http://purl.uniprot.org/citations/20418485 | http://purl.uniprot.org/core/author | "Simon K.C."xsd:string |
| http://purl.uniprot.org/citations/20418485 | http://purl.uniprot.org/core/author | "Purdue M."xsd:string |
| http://purl.uniprot.org/citations/20418485 | http://purl.uniprot.org/core/date | "2010"xsd:gYear |