Sequence variants in ARHGAP15, COLQ and FAM155A associate with diverticular disease and diverticulitis

Snaevar Sigurdsson, Kristjan F. Alexandersson, Patrick Sulem, Bjarke Feenstra, Steinunn Gudmundsdottir, Gisli H. Halldorsson, Sigurgeir Olafsson, Asgeir Sigurdsson, Thorunn Rafnar, Thorgeir Thorgeirsson, Erik Sørensen, Andreas Nordholm-Carstensen, Jakob Burcharth, Jens Andersen, Henrik Stig Jørgensen, Emma Possfelt-Møller, Henrik Ullum, Gudmar Thorleifsson, Gisli Masson, Unnur ThorsteinsdottirMads Melbye, Daniel F. Gudbjartsson, Tryggvi Stefansson, Ingileif Jonsdottir, Kari Stefansson*

*Corresponding author af dette arbejde

    Publikation: Bidrag til tidsskriftArtikelForskningpeer review


    Diverticular disease is characterized by pouches (that is, diverticulae) due to weakness in the bowel wall, which can become infected and inflamed causing diverticulitis, with potentially severe complications. Here, we test 32.4 million sequence variants identified through whole-genome sequencing (WGS) of 15,220 Icelanders for association with diverticular disease (5,426 cases) and its more severe form diverticulitis (2,764 cases). Subsequently, 16 sequence variants are followed up in a diverticular disease sample from Denmark (5,970 cases, 3,020 controls). In the combined Icelandic and Danish data sets we observe significant association of intronic variants in ARHGAP15 (Rho GTPase-Activating protein 15; rs4662344-T: P=1.9 × 10 â '18, odds ratio (OR)=1.23) and COLQ (collagen-like tail subunit of asymmetric acetylcholinesterase; rs7609897-T: P=1.5 × 10 â '10, OR=0.87) with diverticular disease and in FAM155A (family with sequence similarity 155A; rs67153654-A: P=3.0 × 10 â '11, OR=0.82) with diverticulitis. These are the first loci shown to associate with diverticular disease in a genome-wide study.

    TidsskriftNature Communications
    StatusUdgivet - 6 jun. 2017


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