| http://purl.uniprot.org/citations/28319091 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/28319091 | http://www.w3.org/2000/01/rdf-schema#comment | "We performed a genome-wide association study of total hip replacements, based on variants identified through whole-genome sequencing, which included 4,657 Icelandic patients and 207,514 population controls. We discovered two rare signals that strongly associate with osteoarthritis total hip replacement: a missense variant, c.1141G>C (p.Asp369His), in the COMP gene (allelic frequency = 0.026%, P = 4.0 × 10-12, odds ratio (OR) = 16.7) and a frameshift mutation, rs532464664 (p.Val330Glyfs*106), in the CHADL gene that associates through a recessive mode of inheritance (homozygote frequency = 0.15%, P = 4.5 × 10-18, OR = 7.71). On average, c.1141G>C heterozygotes and individuals homozygous for rs532464664 had their hip replacement operation 13.5 years and 4.9 years earlier than others (P = 0.0020 and P = 0.0026), respectively. We show that the full-length CHADL transcript is expressed in cartilage. Furthermore, the premature stop codon introduced by the CHADL frameshift mutation results in nonsense-mediated decay of the mutant transcripts."xsd:string |
| http://purl.uniprot.org/citations/28319091 | http://purl.org/dc/terms/identifier | "doi:10.1038/ng.3816"xsd:string |
| http://purl.uniprot.org/citations/28319091 | http://purl.uniprot.org/core/author | "Magnusdottir A."xsd:string |
| http://purl.uniprot.org/citations/28319091 | http://purl.uniprot.org/core/author | "Christiansen C."xsd:string |
| http://purl.uniprot.org/citations/28319091 | http://purl.uniprot.org/core/author | "Andreassen O.A."xsd:string |
| http://purl.uniprot.org/citations/28319091 | http://purl.uniprot.org/core/author | "Fladby T."xsd:string |
| http://purl.uniprot.org/citations/28319091 | http://purl.uniprot.org/core/author | "Helgason H."xsd:string |
| http://purl.uniprot.org/citations/28319091 | http://purl.uniprot.org/core/author | "Kong A."xsd:string |
| http://purl.uniprot.org/citations/28319091 | http://purl.uniprot.org/core/author | "Selbaek G."xsd:string |
| http://purl.uniprot.org/citations/28319091 | http://purl.uniprot.org/core/author | "Stefansson H."xsd:string |
| http://purl.uniprot.org/citations/28319091 | http://purl.uniprot.org/core/author | "Stefansson K."xsd:string |
| http://purl.uniprot.org/citations/28319091 | http://purl.uniprot.org/core/author | "Sulem P."xsd:string |
| http://purl.uniprot.org/citations/28319091 | http://purl.uniprot.org/core/author | "Samani N.J."xsd:string |
| http://purl.uniprot.org/citations/28319091 | http://purl.uniprot.org/core/author | "Kiemeney L.A."xsd:string |
| http://purl.uniprot.org/citations/28319091 | http://purl.uniprot.org/core/author | "Mayordomo J.I."xsd:string |
| http://purl.uniprot.org/citations/28319091 | http://purl.uniprot.org/core/author | "Rafnar T."xsd:string |
| http://purl.uniprot.org/citations/28319091 | http://purl.uniprot.org/core/author | "Thorsteinsdottir U."xsd:string |
| http://purl.uniprot.org/citations/28319091 | http://purl.uniprot.org/core/author | "Jonsson H."xsd:string |
| http://purl.uniprot.org/citations/28319091 | http://purl.uniprot.org/core/author | "Gretarsdottir S."xsd:string |
| http://purl.uniprot.org/citations/28319091 | http://purl.uniprot.org/core/author | "Helgadottir A."xsd:string |
| http://purl.uniprot.org/citations/28319091 | http://purl.uniprot.org/core/author | "Styrkarsdottir U."xsd:string |
| http://purl.uniprot.org/citations/28319091 | http://purl.uniprot.org/core/author | "Zink F."xsd:string |
| http://purl.uniprot.org/citations/28319091 | http://purl.uniprot.org/core/author | "Loughlin J."xsd:string |
| http://purl.uniprot.org/citations/28319091 | http://purl.uniprot.org/core/author | "Tang N.L.S."xsd:string |