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

Author

Listed:
  • Snaevar Sigurdsson

    (deCODE Genetics/Amgen Inc.)

  • Kristjan F. Alexandersson

    (deCODE Genetics/Amgen Inc.)

  • Patrick Sulem

    (deCODE Genetics/Amgen Inc.)

  • Bjarke Feenstra

    (Statens Serum Institut)

  • Steinunn Gudmundsdottir

    (deCODE Genetics/Amgen Inc.)

  • Gisli H. Halldorsson

    (deCODE Genetics/Amgen Inc.)

  • Sigurgeir Olafsson

    (deCODE Genetics/Amgen Inc.)

  • Asgeir Sigurdsson

    (deCODE Genetics/Amgen Inc.)

  • Thorunn Rafnar

    (deCODE Genetics/Amgen Inc.)

  • Thorgeir Thorgeirsson

    (deCODE Genetics/Amgen Inc.)

  • Erik Sørensen

    (Copenhagen University Hospital/Rigshospitalet)

  • Andreas Nordholm-Carstensen

    (Digestive Disease Center, Bispebjerg Hospital, University of Copenhagen)

  • Jakob Burcharth

    (Herlev Hospital, University of Copenhagen)

  • Jens Andersen

    (Hvidovre university Hospital)

  • Henrik Stig Jørgensen

    (Northern Sealand Hospital)

  • Emma Possfelt-Møller

    (Copenhagen University Hospital/Rigshospitalet)

  • Henrik Ullum

    (Copenhagen University Hospital/Rigshospitalet)

  • Gudmar Thorleifsson

    (deCODE Genetics/Amgen Inc.)

  • Gisli Masson

    (deCODE Genetics/Amgen Inc.)

  • Unnur Thorsteinsdottir

    (deCODE Genetics/Amgen Inc.
    Faculty of Medicine, School of Health Sciences, University of Iceland)

  • Mads Melbye

    (Statens Serum Institut
    University of Copenhagen
    Stanford University School of Medicine)

  • Daniel F. Gudbjartsson

    (deCODE Genetics/Amgen Inc.
    School of Engineering and Natural Sciences, University of Iceland)

  • Tryggvi Stefansson

    (Landspitali, the National University Hospital of Iceland)

  • Ingileif Jonsdottir

    (deCODE Genetics/Amgen Inc.
    Faculty of Medicine, School of Health Sciences, University of Iceland
    Landspitali, the National University Hospital of Iceland)

  • Kari Stefansson

    (deCODE Genetics/Amgen Inc.
    Faculty of Medicine, School of Health Sciences, University of Iceland)

Abstract

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 × 10−18, odds ratio (OR)=1.23) and COLQ (collagen-like tail subunit of asymmetric acetylcholinesterase; rs7609897-T: P=1.5 × 10−10, OR=0.87) with diverticular disease and in FAM155A (family with sequence similarity 155A; rs67153654-A: P=3.0 × 10−11, OR=0.82) with diverticulitis. These are the first loci shown to associate with diverticular disease in a genome-wide study.

Suggested Citation

  • Snaevar Sigurdsson & Kristjan F. Alexandersson & Patrick Sulem & Bjarke Feenstra & Steinunn Gudmundsdottir & Gisli H. Halldorsson & Sigurgeir Olafsson & Asgeir Sigurdsson & Thorunn Rafnar & Thorgeir T, 2017. "Sequence variants in ARHGAP15, COLQ and FAM155A associate with diverticular disease and diverticulitis," Nature Communications, Nature, vol. 8(1), pages 1-7, August.
    • Handle: RePEc:nat:natcom:v:8:y:2017:i:1:d:10.1038_ncomms15789
    DOI: 10.1038/ncomms15789
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