Article
A rare IL33 loss-of-function mutation reduces blood eosinophil counts and protects from asthma.
PLoS genetics - 1 Mar 2017
Smith Dirk, Helgason Hannes, Sulem Patrick, Bjornsdottir Unnur Steina, Lim Ai Ching, Sveinbjornsson Gardar, Hasegawa Haruki, Brown Michael, Ketchem Randal R, Gavala Monica, Garrett Logan, Jonasdottir Adalbjorg, Jonasdottir Aslaug, Sigurdsson Asgeir, Magnusson Olafur T, Eyjolfsson Gudmundur I, Olafsson Isleifur, Onundarson Pall Torfi, Sigurdardottir Olof, Gislason David, Gislason Thorarinn, Ludviksson Bjorn Runar, Ludviksdottir Dora, Boezen H Marike, Heinzmann Andrea, Krueger Marcus, Porsbjerg Celeste, Ahluwalia Tarunveer S, Waage Johannes, Backer Vibeke, Deichmann Klaus A, Koppelman Gerard H, Bønnelykke Klaus, Bisgaard Hans, Masson Gisli, Thorsteinsdottir Unnur, Gudbjartsson Daniel F, Johnston James A, Jonsdottir Ingileif, Stefansson Kari
Abstract excerpt
IL-33 is a tissue-derived cytokine that induces and amplifies eosinophilic inflammation and has emerged as a promising new drug target for asthma and allergic disease. Common variants at IL33 and IL1RL1, encoding the IL-33 receptor ST2, associate with eosinophil counts and asthma. Through whole-genome sequencing and imputation into the Icelandic population, we found a rare variant in IL33...
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