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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2017-06-01
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doaj-f4c9d8f92e1f401f9639a5568e8e94cf2020-12-08T01:54:44ZengNature Publishing GroupScientific Reports2045-23222017-06-01711710.1038/s41598-017-03353-0Sequence variant at 4q25 near PITX2 associates with appendicitisRagnar P. Kristjansson0Stefania Benonisdottir1Asmundur Oddsson2Tessel E. Galesloot3Gudmar Thorleifsson4Katja K. Aben5Olafur B. Davidsson6Stefan Jonsson7Gudny A. Arnadottir8Brynjar O. Jensson9G. Bragi Walters10Jon K. Sigurdsson11Snaevar Sigurdsson12Hilma Holm13David O. Arnar14Gudmundur Thorgeirsson15Kristin Alexiusdottir16Ingileif Jonsdottir17Unnur Thorsteinsdottir18Lambertus A. Kiemeney19Thorvaldur Jonsson20Daniel F. Gudbjartsson21Thorunn Rafnar22Patrick Sulem23Kari Stefansson24deCODE genetics/Amgen, IncdeCODE genetics/Amgen, IncdeCODE genetics/Amgen, IncRadboud University Medical Center, Radboud Institute for Health Sciences, Department for Health Evidence, PO Box 9101deCODE genetics/Amgen, IncRadboud University Medical Center, Radboud Institute for Health Sciences, Department for Health Evidence, PO Box 9101deCODE genetics/Amgen, IncdeCODE genetics/Amgen, IncdeCODE genetics/Amgen, IncdeCODE genetics/Amgen, IncdeCODE genetics/Amgen, IncdeCODE genetics/Amgen, IncdeCODE genetics/Amgen, IncdeCODE genetics/Amgen, IncDepartment of Medicine, Landspítali – The National University Hospital of Iceland, Hringbraut, 101deCODE genetics/Amgen, IncDepartment of Medicine, Landspítali – The National University Hospital of Iceland, Hringbraut, 101deCODE genetics/Amgen, IncdeCODE genetics/Amgen, IncRadboud University Medical Center, Radboud Institute for Health Sciences, Department for Health Evidence, PO Box 9101Faculty of Medicine, University of IcelanddeCODE genetics/Amgen, IncdeCODE genetics/Amgen, IncdeCODE genetics/Amgen, IncdeCODE genetics/Amgen, IncAbstract 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.https://doi.org/10.1038/s41598-017-03353-0 |
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DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
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 |
spellingShingle |
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 Scientific Reports |
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 Publishing Group |
series |
Scientific Reports |
issn |
2045-2322 |
publishDate |
2017-06-01 |
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. |
url |
https://doi.org/10.1038/s41598-017-03353-0 |
work_keys_str_mv |
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