A rare IL33 loss-of-function mutation reduces blood eosinophil counts and protects from asthma

@inproceedings{Smith2017ARI,
  title={A rare IL33 loss-of-function mutation reduces blood eosinophil counts and protects from asthma},
  author={Dirk Smith and Hannes Helgason and Patrick Sulem and Unnur Steina Bjornsdottir and Ai Ching Lim and Gardar Sveinbjornsson and Haruki Hasegawa and Michael D Brown and Randal R Ketchem and Monica Gavala and Logan Garrett and Adalbjorg Jonasdottir and Aslaug Jonasdottir and Asgeir Sigurdsson and Olafur Th. Magnusson and Gudmundur Ingi Eyjolfsson and {\'I}sleifur {\'O}lafsson and Pall T Onundarson and Olof G Sigurdardottir and Dav{\'i}d G{\'i}slason and Thorarinn Gislason and Bjorn Runar Ludviksson and D{\'o}ra L{\'u}dv{\'i}ksd{\'o}ttir and H Marike Boezen and Andrea Heinzmann and Marcus Krueger and Celeste Porsbjerg and Tarunveer S Ahluwalia and Johannes Waage and Vibeke Backer and Klaus A. Deichmann and Gerard H Koppelman and Klaus B\onnelykke and Hans Bisgaard and G{\'i}sli M{\'a}sson and Unnur Thorsteinsdottir and Daniel Fannar Gudbjartsson and James D. Johnston and Ingileif J{\'o}nsd{\'o}ttir and K{\'a}ri Stef{\'a}nsson},
  booktitle={PLoS genetics},
  year={2017}
}
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 (NM_001199640:exon7:c.487-1G>C (rs146597587-C), allele frequency = 0.65%) that disrupts a canonical splice… CONTINUE READING
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