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Sequence variant at 4q25 near PITX2 associates with appendicitis

Sequence variant at 4q25 near PITX2 associates with appendicitis

Title: Sequence variant at 4q25 near PITX2 associates with appendicitis
Author: Kristjansson, Ragnar   orcid.org/0000-0002-3678-5693
Benonisdottir, Stefania   orcid.org/0000-0001-5019-514X
Oddsson, Asmundur   orcid.org/0000-0002-4606-5163
Galesloot, Tessel E.
Þorleifsson, Guðmar
Aben, Katja K.
Davíðsson, Ólafur B.
Jónsson, Stefán
Arnadottir, Gudny   orcid.org/0000-0001-6571-423X
Jensson, Brynjar Örn
... 15 more authors Show all authors
Date: 2017-06-08
Language: English
Scope: 3119
University/Institute: Háskóli Íslands
University of Iceland
School: Heilbrigðisvísindasvið (HÍ)
School of Health Sciences (UI)
Verkfræði- og náttúruvísindasvið (HÍ)
School of Engineering and Natural Sciences (UI)
Department: Læknadeild (HÍ)
Faculty of Medicine (UI)
Series: Scientific Reports;7(1)
ISSN: 2045-2322
DOI: 10.1038/s41598-017-03353-0
Subject: Appendicitis; Risk factors; Genome-wide association studies; Botnlangabólga; Áhættuþættir; Erfðarannsóknir
URI: https://hdl.handle.net/20.500.11815/321

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Ragnar P. Kristjansson, Stefania Benonisdottir, Asmundur Oddsson, Tessel E. Galesloot et al. Scientific Reports 7, Article number: 3119 (2017) doi:10.1038/s41598-017-03353-0


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.


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