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Sequence variant at 4q25 near PITX2 associates with appendicitis
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| Title: | Sequence variant at 4q25 near PITX2 associates with appendicitis |
| Author: |
... 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 |
Citation: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
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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.
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Rights:Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.
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