Sequence variant at 4q25 near PITX2 associates with appendicitis

Ragnar Kristjansson; Stefania Benonisdottir; Asmundur Oddsson; Tessel E. Galesloot; Guðmar Þorleifsson; Katja K. Aben; Ólafur B. Davíðsson; Stefán Jónsson; Gudny Arnadottir; Brynjar Örn Jensson; G. Bragi Walters; Jón K. Sigurðsson; Snævar Sigurðsson; Hilma Holm; Davíð O. Arnar; Gudmundur Thorgeirsson; Kristín Alexíusdóttir; Ingileif Jonsdottir; Unnur Thorsteinsdottir; Lambertus A. Kiemeney; Þorvaldur Jónsson; Daniel Gudbjartsson; Thorunn Rafnar; patrick sulem; Kari Stefansson; Gudmar Thorleifsson; Olafur B Davidsson; Jon K Sigurdsson; Snaevar Sigurdsson; David O Arnar; Thorvaldur Jonsson

doi:10.1038/s41598-017-03353-0

Sequence variant at 4q25 near PITX2 associates with appendicitis

Ragnar Kristjansson, Stefania Benonisdottir, Asmundur Oddsson, Tessel E. Galesloot, Guðmar Þorleifsson, Katja K. Aben, Ólafur B. Davíðsson, Stefán Jónsson, Gudny Arnadottir, Brynjar Örn Jensson, G. Bragi Walters, Jón K. Sigurðsson, Snævar Sigurðsson, Hilma Holm, Davíð O. Arnar, Gudmundur Thorgeirsson, Kristín Alexíusdóttir, Ingileif Jonsdottir, Unnur Thorsteinsdottir, Lambertus A. KiemeneyÞorvaldur Jónsson, Daniel Gudbjartsson, Thorunn Rafnar, patrick sulem, Kari Stefansson, Gudmar Thorleifsson, Olafur B Davidsson, Jon K Sigurdsson, Snaevar Sigurdsson, David O Arnar, Thorvaldur Jonsson

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4 Citations (Scopus)

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.

Original language	English
Number of pages	3119
Journal	Scientific Reports
Volume	7
Issue number	1
DOIs	https://doi.org/10.1038/s41598-017-03353-0
Publication status	Published - 8 Jun 2017

Other keywords

Appendicitis
Risk factors
Genome-wide association studies
Botnlangabólga
Áhættuþættir
Erfðarannsóknir
Gen
CAR12
ONC12
Genome-Wide Association Study

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10.1038/s41598-017-03353-0

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Kristjansson, R., Benonisdottir, S., Oddsson, A., Galesloot, T. E., Þorleifsson, G., Aben, K. K., Davíðsson, Ó. B., Jónsson, S., Arnadottir, G., Jensson, B. Ö., Walters, G. B., Sigurðsson, J. K., Sigurðsson, S., Holm, H., Arnar, D. O., Thorgeirsson, G., Alexíusdóttir, K., Jonsdottir, I., Thorsteinsdottir, U., ... Jonsson, T. (2017). Sequence variant at 4q25 near PITX2 associates with appendicitis. Scientific Reports, 7(1). https://doi.org/10.1038/s41598-017-03353-0

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title = "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 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.",

keywords = "Appendicitis, Risk factors, Genome-wide association studies, Botnlangab{\'o}lga, {\'A}h{\ae}ttu{\th}{\ae}ttir, Erf{\dh}aranns{\'o}knir, Gen, CAR12, ONC12, Genome-Wide Association Study, Appendicitis, Risk factors, Genome-wide association studies, Botnlangab{\'o}lga, {\'A}h{\ae}ttu{\th}{\ae}ttir, Erf{\dh}aranns{\'o}knir, Gen, CAR12, ONC12, Genome-Wide Association Study",

author = "Ragnar Kristjansson and Stefania Benonisdottir and Asmundur Oddsson and Galesloot, {Tessel E.} and Gu{\dh}mar {\TH}orleifsson and Aben, {Katja K.} and Dav{\'i}{\dh}sson, {{\'O}lafur B.} and Stef{\'a}n J{\'o}nsson and Gudny Arnadottir and Jensson, {Brynjar {\"O}rn} and Walters, {G. Bragi} and Sigur{\dh}sson, {J{\'o}n K.} and Sn{\ae}var Sigur{\dh}sson and Hilma Holm and Arnar, {Dav{\'i}{\dh} O.} and Gudmundur Thorgeirsson and Krist{\'i}n Alex{\'i}usd{\'o}ttir and Ingileif Jonsdottir and Unnur Thorsteinsdottir and Kiemeney, {Lambertus A.} and {\TH}orvaldur J{\'o}nsson and Daniel Gudbjartsson and Thorunn Rafnar and patrick sulem and Kari Stefansson and Gudmar Thorleifsson and Davidsson, {Olafur B} and Sigurdsson, {Jon K} and Snaevar Sigurdsson and Arnar, {David O} and Thorvaldur Jonsson",

year = "2017",

month = jun,

day = "8",

doi = "10.1038/s41598-017-03353-0",

language = "English",

volume = "7",

journal = "Scientific Reports",

issn = "2045-2322",

publisher = "Nature Publishing Group",

number = "1",

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Kristjansson, R, Benonisdottir, S, Oddsson, A, Galesloot, TE, Þorleifsson, G, Aben, KK, Davíðsson, ÓB, Jónsson, S, Arnadottir, G, Jensson, BÖ, Walters, GB, Sigurðsson, JK, Sigurðsson, S, Holm, H, Arnar, DO, Thorgeirsson, G, Alexíusdóttir, K, Jonsdottir, I, Thorsteinsdottir, U, Kiemeney, LA, Jónsson, Þ, Gudbjartsson, D, Rafnar, T, sulem, P, Stefansson, K, Thorleifsson, G, Davidsson, OB, Sigurdsson, JK, Sigurdsson, S, Arnar, DO & Jonsson, T 2017, 'Sequence variant at 4q25 near PITX2 associates with appendicitis', Scientific Reports, vol. 7, no. 1. https://doi.org/10.1038/s41598-017-03353-0

TY - JOUR

T1 - Sequence variant at 4q25 near PITX2 associates with appendicitis

AU - Kristjansson, Ragnar

AU - Benonisdottir, Stefania

AU - Oddsson, Asmundur

AU - Galesloot, Tessel E.

AU - Þorleifsson, Guðmar

AU - Aben, Katja K.

AU - Davíðsson, Ólafur B.

AU - Jónsson, Stefán

AU - Arnadottir, Gudny

AU - Jensson, Brynjar Örn

AU - Walters, G. Bragi

AU - Sigurðsson, Jón K.

AU - Sigurðsson, Snævar

AU - Holm, Hilma

AU - Arnar, Davíð O.

AU - Thorgeirsson, Gudmundur

AU - Alexíusdóttir, Kristín

AU - Jonsdottir, Ingileif

AU - Thorsteinsdottir, Unnur

AU - Kiemeney, Lambertus A.

AU - Jónsson, Þorvaldur

AU - Gudbjartsson, Daniel

AU - Rafnar, Thorunn

AU - sulem, patrick

AU - Stefansson, Kari

AU - Thorleifsson, Gudmar

AU - Davidsson, Olafur B

AU - Sigurdsson, Jon K

AU - Sigurdsson, Snaevar

AU - Arnar, David O

AU - Jonsson, Thorvaldur

PY - 2017/6/8

Y1 - 2017/6/8

N2 - 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.

AB - 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.

KW - Appendicitis

KW - Risk factors

KW - Genome-wide association studies

KW - Botnlangabólga

KW - Áhættuþættir

KW - Erfðarannsóknir

KW - Gen

KW - CAR12

KW - ONC12

KW - Genome-Wide Association Study

KW - Appendicitis

KW - Risk factors

KW - Genome-wide association studies

KW - Botnlangabólga

KW - Áhættuþættir

KW - Erfðarannsóknir

KW - Gen

KW - CAR12

KW - ONC12

KW - Genome-Wide Association Study

U2 - 10.1038/s41598-017-03353-0

DO - 10.1038/s41598-017-03353-0

M3 - Article

C2 - 28596592

SN - 2045-2322

VL - 7

JO - Scientific Reports

JF - Scientific Reports

IS - 1

ER -

Sequence variant at 4q25 near PITX2 associates with appendicitis

Abstract

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