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Sequence variant at 4q25 near PITX2 associates with appendicitis

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dc.contributor Háskóli Íslands
dc.contributor University of Iceland
dc.contributor.author Kristjansson, Ragnar
dc.contributor.author Benonisdottir, Stefania
dc.contributor.author Oddsson, Asmundur
dc.contributor.author Galesloot, Tessel E.
dc.contributor.author Þorleifsson, Guðmar
dc.contributor.author Aben, Katja K.
dc.contributor.author Davíðsson, Ólafur B.
dc.contributor.author Jónsson, Stefán
dc.contributor.author Arnadottir, Gudny
dc.contributor.author Jensson, Brynjar Örn
dc.contributor.author Walters, G. Bragi
dc.contributor.author Sigurðsson, Jón K.
dc.contributor.author Sigurðsson, Snævar
dc.contributor.author Holm, Hilma
dc.contributor.author Arnar, Davíð O.
dc.contributor.author Thorgeirsson, Gudmundur
dc.contributor.author Alexíusdóttir, Kristín
dc.contributor.author Jonsdottir, Ingileif
dc.contributor.author Thorsteinsdottir, Unnur
dc.contributor.author Kiemeney, Lambertus A.
dc.contributor.author Jónsson, Þorvaldur
dc.contributor.author Gudbjartsson, Daniel
dc.contributor.author Rafnar, Thorunn
dc.contributor.author sulem, patrick
dc.contributor.author Stefansson, Kari
dc.date.accessioned 2017-07-07T10:21:00Z
dc.date.available 2017-07-07T10:21:00Z
dc.date.issued 2017-06-08
dc.identifier.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
dc.identifier.issn 2045-2322
dc.identifier.uri https://hdl.handle.net/20.500.11815/321
dc.description.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.
dc.format.extent 3119
dc.language.iso en
dc.publisher Springer Nature
dc.relation.ispartofseries Scientific Reports;7(1)
dc.rights info:eu-repo/semantics/openAccess
dc.subject Appendicitis
dc.subject Risk factors
dc.subject Genome-wide association studies
dc.subject Botnlangabólga
dc.subject Áhættuþættir
dc.subject Erfðarannsóknir
dc.title Sequence variant at 4q25 near PITX2 associates with appendicitis
dc.type info:eu-repo/semantics/article
dcterms.license 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/.
dc.description.version Peer Reviewed
dc.identifier.journal Scientific Reports
dc.identifier.doi 10.1038/s41598-017-03353-0
dc.contributor.department Læknadeild (HÍ)
dc.contributor.department Faculty of Medicine (UI)
dc.contributor.school Heilbrigðisvísindasvið (HÍ)
dc.contributor.school School of Health Sciences (UI)
dc.contributor.school Verkfræði- og náttúruvísindasvið (HÍ)
dc.contributor.school School of Engineering and Natural Sciences (UI)

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