Article
A partial loss-of-function variant in STAT6 protects against type 2 asthma.
The Journal of allergy and clinical immunology - 1 Jan 2025
Kristjansdottir Katla, Norddahl Gudmundur L, Ivarsdottir Erna V, Halldorsson Gisli H, Einarsson Gudmundur, Bjarnadottir Kristbjorg, Rutsdottir Gudrun, Arnthorsson Asgeir O, Erikstrup Christian, Gudmundsdottir Steinunn, Gunnarsdottir Kristbjorg, Gunnbjornsdottir Maria I, Halldorsson Bjarni V, Holm Hilma, Ludviksdottir Dora, Ludviksson Bjorn R, Brunak Søren, Bruun Mie Topholm, Mikkelsen Christina, Mikkelsen Susan, Jensen Bitten Aagaard, Sørensen Erik, Thomsen Simon Francis, Ullum Henrik, Olafsson Isleifur, Onundarson Pall T, Ostrowski Sisse Rye, Saevarsdottir Saedis, Sigurdardottir Olof, Sigurgeirsson Bardur, Snaebjarnarson Audunn S, Sveinbjornsson Gardar, Thorlacius Gudny E, Thorleifsson Gudmar, Tragante Vinicius, Vidarsson Brynjar, Porsbjerg Celeste, Bjornsdottir Unnur S, Sulem Patrick, Gudbjartsson Daniel F, Melsted Pall, Pedersen Ole Bv, Jonsdottir Ingileif, Olafsdottir Thorunn A, Stefansson Kari
Abstract excerpt
BACKGROUND: Signal transducer and activator of transcription 6 (STAT6) is central to type 2 (T2) inflammation, and common noncoding variants at the STAT6 locus associate with various T2 inflammatory traits, including diseases, and its pathway is widely targeted in asthma treatment. OBJECTIVE: We sought to test the association of a rare missense variant in STAT6, p.L406P, with T2 inflammatory traits, including the...
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