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Styrkarsdottir, Unnur; Helgason, Hannes; Sigurdsson, Asgeir; Norddahl, Gudmundur L; Agustsdottir, Arna B; Reynard, Louise N; Villalvilla, Amanda; Halldorsson, Gisli H; Jonasdottir, Aslaug; Magnusdottir, Audur; Oddson, Asmundur; Sulem, Gerald; Zink, Florian; Sveinbjornsson, Gardar; Helgason, Agnar; Johannsdottir, Hrefna S; Helgadottir, Anna; Stefansson, Hreinn; Gretarsdottir, Solveig; Rafnar, Thorunn; Almdahl, Ina S; Brækhus, Anne; Fladby, Tormod; Selbæk, Geir; Hosseinpanah, Farhad; Azizi, Fereidoun; Koh, Jung Min; Tang, Nelson L S; Daneshpour, Maryam S; Mayordomo, Jose I; Welt, Corrine; Braund, Peter S; Samani, Nilesh J; Kiemeney, Lambertus A; Lohmander, L Stefan; Christiansen, Claus; Andreassen, Ole A; Magnusson, Olafur; Masson, Gisli; Kong, Augustine; Jonsdottir, Ingileif; Gudbjartsson, Daniel; Sulem, Patrick; Jonsson, Helgi; Loughlin, John; Ingvarsson, Thorvaldur; Thorsteinsdottir, Unnur; Stefansson, Kari
Nature genetics, 05/2017, Letnik: 49, Številka: 5Journal Article
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 , 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 , 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.
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