Scientific Reports (Jun 2017)

Sequence variant at 4q25 near PITX2 associates with appendicitis

  • Ragnar P. Kristjansson,
  • Stefania Benonisdottir,
  • Asmundur Oddsson,
  • Tessel E. Galesloot,
  • Gudmar Thorleifsson,
  • Katja K. Aben,
  • Olafur B. Davidsson,
  • Stefan Jonsson,
  • Gudny A. Arnadottir,
  • Brynjar O. Jensson,
  • G. Bragi Walters,
  • Jon K. Sigurdsson,
  • Snaevar Sigurdsson,
  • Hilma Holm,
  • David O. Arnar,
  • Gudmundur Thorgeirsson,
  • Kristin Alexiusdottir,
  • Ingileif Jonsdottir,
  • Unnur Thorsteinsdottir,
  • Lambertus A. Kiemeney,
  • Thorvaldur Jonsson,
  • Daniel F. Gudbjartsson,
  • Thorunn Rafnar,
  • Patrick Sulem,
  • Kari Stefansson

DOI
https://doi.org/10.1038/s41598-017-03353-0
Journal volume & issue
Vol. 7, no. 1
pp. 1 – 7

Abstract

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Abstract Appendicitis is one of the most common conditions requiring acute surgery and can pose a threat to the lives of affected individuals. We performed a genome-wide association study of appendicitis in 7,276 Icelandic and 1,139 Dutch cases and large groups of controls. In a combined analysis of the Icelandic and Dutch data, we detected a single signal represented by an intergenic variant rs2129979 [G] close to the gene PITX2 associating with increased risk of appendicitis (OR = 1.15, P = 1.8 × 10−11). We only observe the association in patients diagnosed in adulthood. The marker is close to, but distinct from, a set of markers reported to associate with atrial fibrillation, which have been linked to PITX2. PITX2 has been implicated in determination of right-left symmetry during development. Anomalies in organ arrangement have been linked to increased prevalence of gastrointestinal and intra-abdominal complications, which may explain the effect of rs2129979 on appendicitis risk.