Sequence variant at 4q25 near PITX2 associates with appendicitis

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...

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Autores principales:	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
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2017
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/f4c9d8f92e1f401f9639a5568e8e94cf
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spelling	oai:doaj.org-article:f4c9d8f92e1f401f9639a5568e8e94cf2021-12-02T16:06:38ZSequence variant at 4q25 near PITX2 associates with appendicitis10.1038/s41598-017-03353-02045-2322https://doaj.org/article/f4c9d8f92e1f401f9639a5568e8e94cf2017-06-01T00:00:00Zhttps://doi.org/10.1038/s41598-017-03353-0https://doaj.org/toc/2045-2322Abstract 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.Ragnar P. KristjanssonStefania BenonisdottirAsmundur OddssonTessel E. GaleslootGudmar ThorleifssonKatja K. AbenOlafur B. DavidssonStefan JonssonGudny A. ArnadottirBrynjar O. JenssonG. Bragi WaltersJon K. SigurdssonSnaevar SigurdssonHilma HolmDavid O. ArnarGudmundur ThorgeirssonKristin AlexiusdottirIngileif JonsdottirUnnur ThorsteinsdottirLambertus A. KiemeneyThorvaldur JonssonDaniel F. GudbjartssonThorunn RafnarPatrick SulemKari StefanssonNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 7, Iss 1, Pp 1-7 (2017)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q 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 Sequence variant at 4q25 near PITX2 associates with appendicitis
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.
format	article
author	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
author_facet	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
author_sort	Ragnar P. Kristjansson
title	Sequence variant at 4q25 near PITX2 associates with appendicitis
title_short	Sequence variant at 4q25 near PITX2 associates with appendicitis
title_full	Sequence variant at 4q25 near PITX2 associates with appendicitis
title_fullStr	Sequence variant at 4q25 near PITX2 associates with appendicitis
title_full_unstemmed	Sequence variant at 4q25 near PITX2 associates with appendicitis
title_sort	sequence variant at 4q25 near pitx2 associates with appendicitis
publisher	Nature Portfolio
publishDate	2017
url	https://doaj.org/article/f4c9d8f92e1f401f9639a5568e8e94cf
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Sequence variant at 4q25 near PITX2 associates with appendicitis

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