Research
Print page Print page
Switch language
The Capital Region of Denmark - a part of Copenhagen University Hospital
Published

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

Research output: Contribution to journalJournal articleResearchpeer-review

DOI

  1. An atlas of O-linked glycosylation on peptide hormones reveals diverse biological roles

    Research output: Contribution to journalJournal articleResearchpeer-review

  2. Whole genome landscapes of uveal melanoma show an ultraviolet radiation signature in iris tumours

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. Author Correction: Mutational and putative neoantigen load predict clinical benefit of adoptive T cell therapy in melanoma

    Research output: Contribution to journalJournal articleResearchpeer-review

  4. Genomic analysis of male puberty timing highlights shared genetic basis with hair colour and lifespan

    Research output: Contribution to journalJournal articleResearchpeer-review

  5. Functional hypoxia drives neuroplasticity and neurogenesis via brain erythropoietin

    Research output: Contribution to journalJournal articleResearchpeer-review

  1. Face masks for the prevention of COVID-19 - Rationale and design of the randomised controlled trial DANMASK-19

    Research output: Contribution to journalJournal articleResearchpeer-review

  2. Automatically generated smartphone data and subjective stress in healthy individuals - a pilot study

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. The donors perceived positive and negative effects of blood donation

    Research output: Contribution to journalJournal articleResearchpeer-review

View graph of relations

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.

Original languageEnglish
JournalNature Communications
Volume8
Pages (from-to)e15789
ISSN2041-1723
DOIs
Publication statusPublished - Jun 2017

    Research areas

  • Journal Article

ID: 50596822