Article
Whole-genome sequencing identifies rare genotypes in COMP and CHADL associated with high risk of hip osteoarthritis.
Nature genetics - 1 May 2017
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
Abstract excerpt
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,...
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