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 Thorsteinsdottir, Mads Melbye, Daniel F. Gudbjartsson, Tryggvi Stefansson, Ingileif Jonsdottir () and Kari Stefansson ()
Additional contact information
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.
Mads Melbye: Statens Serum Institut
Daniel F. Gudbjartsson: deCODE Genetics/Amgen Inc.
Tryggvi Stefansson: Landspitali, the National University Hospital of Iceland
Ingileif Jonsdottir: deCODE Genetics/Amgen Inc.
Kari Stefansson: deCODE Genetics/Amgen Inc.

Nature Communications, 2017, vol. 8, issue 1, 1-7

Abstract: 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.

Date: 2017
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DOI: 10.1038/ncomms15789

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