| http://purl.uniprot.org/citations/22792071 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/22792071 | http://www.w3.org/2000/01/rdf-schema#comment | "We aimed to identify genetic variants associated with cortical bone thickness (CBT) and bone mineral density (BMD) by performing two separate genome-wide association study (GWAS) meta-analyses for CBT in 3 cohorts comprising 5,878 European subjects and for BMD in 5 cohorts comprising 5,672 individuals. We then assessed selected single-nucleotide polymorphisms (SNPs) for osteoporotic fracture in 2,023 cases and 3,740 controls. Association with CBT and forearm BMD was tested for ∼2.5 million SNPs in each cohort separately, and results were meta-analyzed using fixed effect meta-analysis. We identified a missense SNP (Thr>Ile; rs2707466) located in the WNT16 gene (7q31), associated with CBT (effect size of -0.11 standard deviations [SD] per C allele, P = 6.2 × 10(-9)). This SNP, as well as another nonsynonymous SNP rs2908004 (Gly>Arg), also had genome-wide significant association with forearm BMD (-0.14 SD per C allele, P = 2.3 × 10(-12), and -0.16 SD per G allele, P = 1.2 × 10(-15), respectively). Four genome-wide significant SNPs arising from BMD meta-analysis were tested for association with forearm fracture. SNP rs7776725 in FAM3C, a gene adjacent to WNT16, was associated with a genome-wide significant increased risk of forearm fracture (OR = 1.33, P = 7.3 × 10(-9)), with genome-wide suggestive signals from the two missense variants in WNT16 (rs2908004: OR = 1.22, P = 4.9 × 10(-6) and rs2707466: OR = 1.22, P = 7.2 × 10(-6)). We next generated a homozygous mouse with targeted disruption of Wnt16. Female Wnt16(-/-) mice had 27% (P<0.001) thinner cortical bones at the femur midshaft, and bone strength measures were reduced between 43%-61% (6.5 × 10(-13)xsd:string |
| http://purl.uniprot.org/citations/22792071 | http://purl.org/dc/terms/identifier | "doi:10.1371/journal.pgen.1002745"xsd:string |
| http://purl.uniprot.org/citations/22792071 | http://purl.uniprot.org/core/author | "Brown M.A."xsd:string |
| http://purl.uniprot.org/citations/22792071 | http://purl.uniprot.org/core/author | "Evans D.M."xsd:string |
| http://purl.uniprot.org/citations/22792071 | http://purl.uniprot.org/core/author | "Leo P.J."xsd:string |
| http://purl.uniprot.org/citations/22792071 | http://purl.uniprot.org/core/author | "Liu J."xsd:string |
| http://purl.uniprot.org/citations/22792071 | http://purl.uniprot.org/core/author | "Xiao Y."xsd:string |
| http://purl.uniprot.org/citations/22792071 | http://purl.uniprot.org/core/author | "Karlsson M."xsd:string |
| http://purl.uniprot.org/citations/22792071 | http://purl.uniprot.org/core/author | "Spector T."xsd:string |
| http://purl.uniprot.org/citations/22792071 | http://purl.uniprot.org/core/author | "Mitchell B.D."xsd:string |
| http://purl.uniprot.org/citations/22792071 | http://purl.uniprot.org/core/author | "Rivadeneira F."xsd:string |
| http://purl.uniprot.org/citations/22792071 | http://purl.uniprot.org/core/author | "Smith G.D."xsd:string |
| http://purl.uniprot.org/citations/22792071 | http://purl.uniprot.org/core/author | "Ring S.M."xsd:string |
| http://purl.uniprot.org/citations/22792071 | http://purl.uniprot.org/core/author | "Jones G."xsd:string |
| http://purl.uniprot.org/citations/22792071 | http://purl.uniprot.org/core/author | "Danoy P."xsd:string |
| http://purl.uniprot.org/citations/22792071 | http://purl.uniprot.org/core/author | "Streeten E.A."xsd:string |
| http://purl.uniprot.org/citations/22792071 | http://purl.uniprot.org/core/author | "Goltzman D."xsd:string |
| http://purl.uniprot.org/citations/22792071 | http://purl.uniprot.org/core/author | "Paternoster L."xsd:string |
| http://purl.uniprot.org/citations/22792071 | http://purl.uniprot.org/core/author | "Brommage R."xsd:string |
| http://purl.uniprot.org/citations/22792071 | http://purl.uniprot.org/core/author | "Ohlsson C."xsd:string |
| http://purl.uniprot.org/citations/22792071 | http://purl.uniprot.org/core/author | "Richards J.B."xsd:string |
| http://purl.uniprot.org/citations/22792071 | http://purl.uniprot.org/core/author | "Eriksson J."xsd:string |
| http://purl.uniprot.org/citations/22792071 | http://purl.uniprot.org/core/author | "Lorentzon M."xsd:string |
| http://purl.uniprot.org/citations/22792071 | http://purl.uniprot.org/core/author | "Medina-Gomez C."xsd:string |