Article
FLT3 stop mutation increases FLT3 ligand level and risk of autoimmune thyroid disease.
Nature - 1 Aug 2020
Saevarsdottir Saedis, Olafsdottir Thorunn A, Ivarsdottir Erna V, Halldorsson Gisli H, Gunnarsdottir Kristbjorg, Sigurdsson Asgeir, Johannesson Ari, Sigurdsson Jon K, Juliusdottir Thorhildur, Lund Sigrun H, Arnthorsson Asgeir O, Styrmisdottir Edda L, Gudmundsson Julius, Grondal Gerdur M, Steinsson Kristjan, Alfredsson Lars, Askling Johan, Benediktsson Rafn, Bjarnason Ragnar, Geirsson Arni J, Gudbjornsson Bjorn, Gudjonsson Hallgrimur, Hjaltason Haukur, Hreidarsson Astradur B, Klareskog Lars, Kockum Ingrid, Kristjansdottir Helga, Love Thorvardur J, Ludviksson Bjorn R, Olsson Tomas, Onundarson Pall T, Orvar Kjartan B, Padyukov Leonid, Sigurgeirsson Bardur, Tragante Vinicius, Bjarnadottir Kristbjorg, Rafnar Thorunn, Masson Gisli, Sulem Patrick, Gudbjartsson Daniel F, Melsted Pall, Thorleifsson Gudmar, Norddahl Gudmundur L, Thorsteinsdottir Unnur, Jonsdottir Ingileif, Stefansson Kari
Abstract excerpt
Autoimmune thyroid disease is the most common autoimmune disease and is highly heritable1. Here, by using a genome-wide association study of 30,234 cases and 725,172 controls from Iceland and the UK Biobank, we find 99 sequence variants at 93 loci, of which 84 variants are previously unreported2-7. A low-frequency (1.36%) intronic variant in FLT3 (rs76428106-C) has the largest effect on risk of autoimmune thyroid...
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