Sequence variant at 4q25 near PITX2 associates with appendicitis

Ragnar Kristjansson, Stefania Benonisdottir, Asmundur Oddsson, Tessel E. Galesloot, Guðmar Þorleifsson, Katja K. Aben, Ólafur B. Davíðsson, Stefán Jónsson, Gudny Arnadottir, Brynjar Örn Jensson, G. Bragi Walters, Jón K. Sigurðsson, Snævar Sigurðsson, Hilma Holm, Davíð O. Arnar, Gudmundur Thorgeirsson, Kristín Alexíusdóttir, Ingileif Jonsdottir, Unnur Thorsteinsdottir, Lambertus A. KiemeneyÞorvaldur Jónsson, Daniel Gudbjartsson, Thorunn Rafnar, patrick sulem, Kari Stefansson, Gudmar Thorleifsson, Olafur B Davidsson, Jon K Sigurdsson, Snaevar Sigurdsson, David O Arnar, Thorvaldur Jonsson

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4 Citations (Scopus)


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.
Original languageEnglish
Number of pages3119
JournalScientific Reports
Issue number1
Publication statusPublished - 8 Jun 2017

Other keywords

  • Appendicitis
  • Risk factors
  • Genome-wide association studies
  • Botnlangabólga
  • Áhættuþættir
  • Erfðarannsóknir
  • Gen
  • CAR12
  • ONC12
  • Genome-Wide Association Study


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