Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16

被引：0

作者：

Heather J Cordell

Jamie Bentham

Ana Topf

Diana Zelenika

Simon Heath

Chrysovalanto Mamasoula

Catherine Cosgrove

Gillian Blue

Javier Granados-Riveron

Kerry Setchfield

Chris Thornborough

Jeroen Breckpot

Rachel Soemedi

Ruairidh Martin

Thahira J Rahman

Darroch Hall

Klaartje van Engelen

Antoon F M Moorman

Aelko H Zwinderman

Phil Barnett

Tamara T Koopmann

Michiel E Adriaens

Andras Varro

Alfred L George

Christobal dos Remedios

Nanette H Bishopric

Connie R Bezzina

John O'Sullivan

Marc Gewillig

Frances A Bu'Lock

David Winlaw

Shoumo Bhattacharya

Koen Devriendt

J David Brook

Barbara J M Mulder

Seema Mital

Alex V Postma

G Mark Lathrop

Martin Farrall

Judith A Goodship

Bernard D Keavney

机构：

[1] Institute of Genetic Medicine,Department of Cardiovascular Medicine

[2] Newcastle University,Department of Clinical Genetics

[3] University of Oxford,Department of Clinical Epidemiology

[4] Commisariat à l'Energie Atomique (CEA),Department of Clinical and Experimental Cardiology

[5] Institut Genomique,Department of Pharmacology and Pharmacotherapy

[6] Centre National de Genotypage,Department of Medicine, Division of Genetic Medicine

[7] Fondation Jean Dausset,Department of Anatomy

[8] Centre d'Etude du Polymorphisme Humain,Department of Medicine

[9] Centro Nacional de Análisis Genómico,undefined

[10] The Children's Hospital at Westmead,undefined

[11] Institute of Genetics,undefined

[12] University of Nottingham,undefined

[13] East Midlands Congenital Heart Centre,undefined

[14] University Hospitals of Leicester National Health Service (NHS) Trust,undefined

[15] Center for Human Genetics,undefined

[16] University of Leuven,undefined

[17] Academic Medical Center,undefined

[18] Heart Failure Research Center,undefined

[19] Academic Medical Center,undefined

[20] Biostatistics and Bioinformatics,undefined

[21] Academic Medical Center,undefined

[22] Heart Failure Research Center,undefined

[23] Academic Medical Center,undefined

[24] Faculty of Medicine,undefined

[25] University of Szeged,undefined

[26] Vanderbilt University,undefined

[27] Muscle Research Unit,undefined

[28] Bosch Institute,undefined

[29] The University of Sydney,undefined

[30] Molecular and Cellular Pharmacology,undefined

[31] University of Miami Miller School of Medicine,undefined

[32] Newcastle Hospitals NHS Foundation Trust,undefined

[33] Pediatric Cardiology,undefined

[34] University of Leuven,undefined

[35] Heart Center,undefined

[36] Academic Medical Center,undefined

[37] Hospital for Sick Children,undefined

[38] Institute of Cardiovascular Sciences,undefined

[39] University of Manchester,undefined

[40] Present address: Department of Genetics,undefined

[41] Genomics and Bioinformatics,undefined

[42] Hospital Infantil de México Federico Gómez,undefined

[43] Mexico City,undefined

[44] Mexico.,undefined

来源：

Nature Genetics | 2013年 / 45卷

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学科分类号：

摘要：

Bernard Keavney, Judith Goodship and colleagues report a genome-wide association study of congenital heart disease and identify a region on chromosome 4p16 associated with risk of atrial septal defect.

引用

页码：822 / 824

页数：2

共 61 条

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[4] Rankin J(2006)Atrial septal defects in the adult: recent progress and overview Circulation 114 1645-1653
[5] Soemedi R(1970)Natural history of atrial septal defect Br. Heart J. 32 820-826
[6] Pruim RJ(2009)Role of syntaxin 18 in the organization of endoplasmic reticulum subdomains J. Cell Sci. 122 1680-1690
[7] Webb G(2008)Msx1 and Msx2 are functional interacting partners of T-box factors in the regulation of Connexin43 Cardiovasc. Res. 78 485-493
[8] Gatzoulis MA(1997)Holt-Oram syndrome is caused by mutations in Nat. Genet. 15 21-29
[9] Campbell M(2008), a member of the Brachyury (T) gene family BMC Dev. Biol. 8 75-4950
[10] Iinuma T(2005) and Development 132 4937-74

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