Evidence map›Paper›PMID 34886679›Full record

ArticleCirculation research2022

Common Genetic Variants Contribute to Risk of Transposition of the Great Arteries.

Doris Škorić-Milosavljević, Rafik Tadros, Fernanda M Bosada, Federico Tessadori, Jan Hendrik van Weerd, Odilia I Woudstra, Fleur V Y Tjong, Najim Lahrouchi, Fanny Bajolle, Heather J Cordell and 71 more

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Article in Circulation research, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.

0numbers the graph read from it
0cells of the map it votes in
25citing papers in PubMed
2.4field-weighted citation impact, top 10% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

25 citing papers in PubMed, 38 citations in OpenAlex.

  1. Article
  2. Article
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  4. Prenatal diagnosis and clinical pregnancy outcome of fetuses with conotruncal defects in a Chinese cohort.International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics · 2025
    Article
  5. Current and future diagnostics of congenital heart disease (CHD).Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2025
    Article
  6. Review
  7. Article
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  10. Article
  11. Article
  12. Article
  13. Review
  14. Review
  15. Article
  16. Review
  17. Article
  18. Article
  19. Human Genetics of d-Transposition of Great Arteries.Advances in experimental medicine and biology · 2024
    Review
  20. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

81 authors at 20 institutions in 13 countries.

Doris Škorić-Milosavljević *Department of Clinical and Experimental Cardiology, Amsterdam University Medical Centers, University of Amsterdam, Heart Center, Amsterdam Cardiovascular Sciences, The Netherlands (D.S.-M., R.T., O.I.W., F.V.Y.T., N.L., E.M.L., L.B., B.J.B., B.J.M., C.R.B.).ORCID 0000-0001-7089-3703
Rafik Tadros *Department of Clinical and Experimental Cardiology, Amsterdam University Medical Centers, University of Amsterdam, Heart Center, Amsterdam Cardiovascular Sciences, The Netherlands (D.S.-M., R.T., O.I.W., F.V.Y.T., N.L., E.M.L., L.B., B.J.B., B.J.M., C.R.B.).ORCID 0000-0002-1472-0258
Fernanda M Bosada *Department of Medical Biology, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam Cardiovascular Sciences, the Netherlands (F.M.B., J.H.v.W., P.B., A.I., K.v.D., V.M.C., A.V.P.).ORCID 0000-0001-9817-7370
Federico Tessadori *Hubrecht Institute-KNAW and University Medical Center Utrecht, the Netherlands (F.T., J.B., C.J.B.).ORCID 0000-0001-9975-0546
Jan Hendrik van WeerdDepartment of Medical Biology, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam Cardiovascular Sciences, the Netherlands (F.M.B., J.H.v.W., P.B., A.I., K.v.D., V.M.C., A.V.P.).ORCID 0000-0001-7955-8477
Odilia I WoudstraDepartment of Clinical and Experimental Cardiology, Amsterdam University Medical Centers, University of Amsterdam, Heart Center, Amsterdam Cardiovascular Sciences, The Netherlands (D.S.-M., R.T., O.I.W., F.V.Y.T., N.L., E.M.L., L.B., B.J.B., B.J.M., C.R.B.).ORCID 0000-0003-4255-1401
Fleur V Y TjongDepartment of Clinical and Experimental Cardiology, Amsterdam University Medical Centers, University of Amsterdam, Heart Center, Amsterdam Cardiovascular Sciences, The Netherlands (D.S.-M., R.T., O.I.W., F.V.Y.T., N.L., E.M.L., L.B., B.J.B., B.J.M., C.R.B.).ORCID 0000-0001-9608-0081
Najim LahrouchiDepartment of Clinical and Experimental Cardiology, Amsterdam University Medical Centers, University of Amsterdam, Heart Center, Amsterdam Cardiovascular Sciences, The Netherlands (D.S.-M., R.T., O.I.W., F.V.Y.T., N.L., E.M.L., L.B., B.J.B., B.J.M., C.R.B.).ORCID 0000-0003-1753-452X
Fanny BajolleGerman Heart Center Berlin, Department of Congenital Heart Disease, Pediatric Cardiology, DZHK (German Centre for Cardiovascular Research), Partner Site Berlin, Germany (F.B., S.S.).ORCID 0000-0002-1106-0987
Heather J CordellPopulation Health Sciences Institute, Newcastle University, Newcastle, United Kingdom (H.J.C.).ORCID 0000-0002-1879-5572
A J AgopianHuman Genetics Center, Department of Epidemiology, Human Genetics, and Environmental Sciences, UTHealth School of Public Health, Houston, TX (A.J.A.).ORCID 0000-0002-5874-4155
Gillian M BlueHeart Centre for Children, The Children's Hospital at Westmead and Sydney Medical School, Faculty of Medicine and Health, University of Sydney, Australia (G.M.B., D.S.W.).ORCID 0000-0002-1480-9535
Daniela Q C M Barge-SchaapveldDepartment of Clinical Genetics, Leiden University Medical Center, The Netherlands (D.Q.C.M.B.-S.).ORCID 0000-0003-4461-4293
Marc GewilligUniversity of Leuven, Belgium (M.G.).ORCID 0000-0002-4595-5922
Christoph PreussCardiovascular Genetics, Department of Pediatrics, CHU Sainte-Justine, Université de Montréal, Québec, Canada (C.P., G.A.).ORCID 0000-0003-1039-6080
Elisabeth M LodderDepartment of Clinical and Experimental Cardiology, Amsterdam University Medical Centers, University of Amsterdam, Heart Center, Amsterdam Cardiovascular Sciences, The Netherlands (D.S.-M., R.T., O.I.W., F.V.Y.T., N.L., E.M.L., L.B., B.J.B., B.J.M., C.R.B.).ORCID 0000-0001-6017-3796
Phil BarnettDepartment of Medical Biology, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam Cardiovascular Sciences, the Netherlands (F.M.B., J.H.v.W., P.B., A.I., K.v.D., V.M.C., A.V.P.).ORCID 0000-0001-7420-6106
Aho IlgunDepartment of Medical Biology, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam Cardiovascular Sciences, the Netherlands (F.M.B., J.H.v.W., P.B., A.I., K.v.D., V.M.C., A.V.P.).
Leander BeekmanDepartment of Clinical and Experimental Cardiology, Amsterdam University Medical Centers, University of Amsterdam, Heart Center, Amsterdam Cardiovascular Sciences, The Netherlands (D.S.-M., R.T., O.I.W., F.V.Y.T., N.L., E.M.L., L.B., B.J.B., B.J.M., C.R.B.).
Karel van DuijvenbodenDepartment of Medical Biology, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam Cardiovascular Sciences, the Netherlands (F.M.B., J.H.v.W., P.B., A.I., K.v.D., V.M.C., A.V.P.).
Regina BokenkampDivision of Pediatric Cardiology, Department of Pediatrics (R.B., R.L.F.v.d.P.), Leiden University Medical Center, The Netherlands.
Martina Müller-NurasyidInstitute of Genetic Epidemiology, Helmholtz Zentrum München - German Research Center for Environmental Health, Neuherberg, Germany (M.M.-N.).ORCID 0000-0003-3793-5910
KORA-Study Group
Hubert W VliegenDepartment of Cardiology (H.W.V.), Leiden University Medical Center, The Netherlands.ORCID 0000-0002-6181-3377
Thelma C KoningsDepartment of Cardiology, Amsterdam University Medical Centers, VU Amsterdam, The Netherlands (T.C.K.).
Joost P van MelleDepartment of Cardiology, University Medical Center Groningen, University of Groningen, The Netherlands (J.P.v.M.).
Arie P J van DijkDepartment of Cardiology, Radboud University Medical Center, Nijmegen, The Netherlands (A.P.J.v.D., R.R.J.v.K.).
Roland R J van KimmenadeDepartment of Cardiology, Radboud University Medical Center, Nijmegen, The Netherlands (A.P.J.v.D., R.R.J.v.K.).
Jolien W Roos-HesselinkDepartment of Cardiology, Erasmus Medical Center, Erasmus University, Rotterdam, The Netherlands (J.W.R.-H.).ORCID 0000-0002-6770-3830
Gertjan T SieswerdaDepartment of Cardiology, University Medical Center Utrecht, The Netherlands (O.I.W., G.T.S., F.M.).ORCID 0000-0002-8296-6954
Folkert MeijboomDepartment of Cardiology, University Medical Center Utrecht, The Netherlands (O.I.W., G.T.S., F.M.).
Hashim Abdul-KhaliqSaarland University Medical Center, Department of Pediatric Cardiology, Homburg, Germany (H.A.-K.).ORCID 0000-0002-5752-5866
Felix BergerUnité Médico-Chirurgicale de Cardiologie Congénitale et Pédiatrique, Centre de référence Malformations Cardiaques Congénitales Complexes - M3C, Hôpital Necker Enfants Malades, APHP and Université Paris Descartes, Sorbonne Paris Cité, Paris, France (F.B., D.B.).ORCID 0000-0001-7881-1557
Sven DittrichDepartment of Pediatric Cardiology, Friedrich-Alexander-University of Erlangen-Nuernberg (FAU), Germany (S.D., J.M.).ORCID 0000-0002-8455-3416
Marc-Phillip HitzDepartment of Congenital Heart Disease and Pediatric Cardiology, University Hospital Schleswig-Holstein/Campus Kiel, DZHK (German Centre for Cardiovascular Research), partner site Hamburg/Kiel/Lübeck, Germany (M.-P.H.).
Julia MoosmannDepartment of Pediatric Cardiology, Friedrich-Alexander-University of Erlangen-Nuernberg (FAU), Germany (S.D., J.M.).ORCID 0000-0002-8843-7084
Frank-Thomas RiedeLeipzig Heart Center, Department of Pediatric Cardiology, University of Leipzig, Germany (F.-T.R.).
Stephan SchubertGerman Heart Center Berlin, Department of Congenital Heart Disease, Pediatric Cardiology, DZHK (German Centre for Cardiovascular Research), Partner Site Berlin, Germany (F.B., S.S.).ORCID 0000-0003-2894-6490
Pilar GalanSorbonne Paris Nord (Paris 13) University, Inserm U1153, Inrae U1125, Cnam, Nutritional Epidemiology Research Team (EREN), Epidemiology and Statistics Research Center - University of Paris (CRESS), Bobigny, France (P.G.).
Mark LathropMcGill Genome Centre and Department of Human Genetics, McGill University, Montreal, Québec, Canada (M.L., H.M.M.).ORCID 0000-0002-2660-7105
Hans M MunterMcGill Genome Centre and Department of Human Genetics, McGill University, Montreal, Québec, Canada (M.L., H.M.M.).
Ammar Al-ChalabiMaurice Wohl Clinical Neuroscience Institute, Department of Basic and Clinical Neuroscience, King's College London, United Kingdom (A.A.-C.).ORCID 0000-0002-4924-7712
Christopher E ShawUnited Kingdom Dementia Research Institute Centre, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology and Neuroscience, King's College London, United Kingdom (C.E.S.).ORCID 0000-0003-0251-0146
Pamela J ShawSheffield Institute for Translational Neuroscience (SITraN), University of Sheffield and NIHR Sheffield Biomedical Research Centre for Translational Neuroscience, United Kingdom (P.J.S.).ORCID 0000-0002-8925-2567
Karen E MorrisonFaculty of Medicine Health & Life Sciences, Queens University Belfast, United Kingdom (K.E.M.).ORCID 0000-0003-0216-5717
Jan H VeldinkDepartment of Neurology, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands (J.H.V., L.H.v.d.B.).ORCID 0000-0001-5572-9657
Leonard H van den BergDepartment of Neurology, UMC Utrecht Brain Center, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands (J.H.V., L.H.v.d.B.).
Sylvia EvansSkaggs School of Pharmacy and Pharmaceutical Sciences, University of California, San Diego (S.E.).ORCID 0000-0001-5035-3697
Marcelo A NobregaDepartment of Human Genetics, University of Chicago, IL (M.A.N., I.A.).ORCID 0000-0002-2134-9661
Ivy AneasDepartment of Human Genetics, University of Chicago, IL (M.A.N., I.A.).
Milena Radivojkov-BlagojevićHelmholtz Zentrum Munich, Institut of Human Genetics, Neuherberg, Germany (M.R.-B., T.M.).ORCID 0000-0001-5834-5122
Thomas MeitingerHelmholtz Zentrum Munich, Institut of Human Genetics, Neuherberg, Germany (M.R.-B., T.M.).ORCID 0000-0002-8838-8403
Erwin OechslinPeter Munk Cardiac Center, Toronto Congenital Cardiac Centre for Adults and University of Toronto, Canada (E.O.).ORCID 0000-0001-7084-8494
Tapas MondalDZHK (German Centre for Cardiovascular Research), partner site Munich Heart Alliance, Germany (T.M.).
Lynn BerginDivision of Cardiology, Department of Medicine, London Health Sciences Centre, ON, Canada (L.B.).ORCID 0000-0002-5226-9349
John F SmytheDivision of Cardiology, Department of Pediatrics, Kingston General Hospital, ON, Canada (J.F.S.).
Luis Altamirano-DiazWestern University, Ontario, Canada (L.A.-D.).ORCID 0000-0001-9416-1670
Jane LougheedDivision of Cardiology, Department of Pediatrics, Children's Hospital of Eastern Ontario, Ottawa, Canada (J.L.).ORCID 0000-0002-1472-0258
Berto J BoumaDepartment of Clinical and Experimental Cardiology, Amsterdam University Medical Centers, University of Amsterdam, Heart Center, Amsterdam Cardiovascular Sciences, The Netherlands (D.S.-M., R.T., O.I.W., F.V.Y.T., N.L., E.M.L., L.B., B.J.B., B.J.M., C.R.B.).ORCID 0000-0002-1433-9692
Marie-A ChaixDepartment of Medicine, Cardiovascular Genetics Center, Montreal Heart Institute and Faculty of Medicine, Université de Montréal, Montreal, Québec, Canada (R.T., M.-A.C.).ORCID 0000-0002-7748-2779
Jennie KlineDepartment of Epidemiology, Mailman School of Public Health, Columbia University, NY (J.K.).
Anne S BassettClinical Genetics Research Program, Centre for Addiction and Mental Health (A.S.B.).ORCID 0000-0002-0681-7279
Gregor AndelfingerCardiovascular Genetics, Department of Pediatrics, CHU Sainte-Justine, Université de Montréal, Québec, Canada (C.P., G.A.).ORCID 0000-0002-9047-0502
Roel L F van der PalenDivision of Pediatric Cardiology, Department of Pediatrics (R.B., R.L.F.v.d.P.), Leiden University Medical Center, The Netherlands.ORCID 0000-0003-3640-603X
Patrice BouvagnetCPDPN, Hôpital MFME, CHU Martinique, Fort de France, Martinique, France (P.B.).ORCID 0000-0001-7583-0533
Sally-Ann B ClurDepartment of Pediatric Cardiology, Emma Children's Hospital Amsterdam University Medical Centers (AMC), The Netherlands (S.-A.B.C.).ORCID 0000-0001-5276-1475
Jeroen BreckpotHubrecht Institute-KNAW and University Medical Center Utrecht, the Netherlands (F.T., J.B., C.J.B.).ORCID 0000-0002-0734-5154
Wilhelmina S Kerstjens-FrederikseDepartment of Clinical Genetics, University Medical Center Groningen, University of Groningen, The Netherlands (W.S.K.-F.).ORCID 0000-0003-2528-2203
David S WinlawHeart Centre for Children, The Children's Hospital at Westmead and Sydney Medical School, Faculty of Medicine and Health, University of Sydney, Australia (G.M.B., D.S.W.).ORCID 0000-0001-8005-3361
Ulrike M M BauerNational Register for Congenital Heart Defects, DZHK (German Centre for Cardiovascular Research), Berlin, Germany (U.M.M.B.).ORCID 0000-0002-6317-3609
Seema MitalHospital for Sick Children, University of Toronto, Ontario, Canada (S.M.).ORCID 0000-0002-7643-4484
Elizabeth GoldmuntzDivision of Cardiology, Children's Hospital of Philadelphia and Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA (E.G.).ORCID 0000-0003-2936-4396
Bernard KeavneyDivision of Cardiovascular Sciences, School of Medical Sciences, Faculty of Biology, Medicine and Health, The University of Manchester and Manchester University NHS Foundation Trust, Manchester Academic Health Science Centre, United Kingdom (B.K.).ORCID 0000-0001-9573-0812
Damien BonnetUnité Médico-Chirurgicale de Cardiologie Congénitale et Pédiatrique, Centre de référence Malformations Cardiaques Congénitales Complexes - M3C, Hôpital Necker Enfants Malades, APHP and Université Paris Descartes, Sorbonne Paris Cité, Paris, France (F.B., D.B.).ORCID 0000-0002-8722-5805
Barbara J MulderDepartment of Clinical and Experimental Cardiology, Amsterdam University Medical Centers, University of Amsterdam, Heart Center, Amsterdam Cardiovascular Sciences, The Netherlands (D.S.-M., R.T., O.I.W., F.V.Y.T., N.L., E.M.L., L.B., B.J.B., B.J.M., C.R.B.).
Michael W T TanckDepartment of Clinical Epidemiology, Biostatistics and Bioinformatics, Amsterdam Public Health (APH), Amsterdam University Medical Centers, University of Amsterdam, The Netherlands (M.W.T.T.).ORCID 0000-0001-9828-4459
Jeroen BakkersDivision of Heart and Lungs, Department of Medical Physiology, University Medical Center Utrecht, the Netherlands (J.B.).ORCID 0000-0002-9418-0422
Vincent M ChristoffelsDepartment of Medical Biology, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam Cardiovascular Sciences, the Netherlands (F.M.B., J.H.v.W., P.B., A.I., K.v.D., V.M.C., A.V.P.).ORCID 0000-0003-4131-2636
Cornelis J BoogerdHubrecht Institute-KNAW and University Medical Center Utrecht, the Netherlands (F.T., J.B., C.J.B.).ORCID 0000-0002-7119-5381
Alex V Postma *Department of Human Genetics, Amsterdam University Medical Centers, The Netherlands (D.S.-M., E.M.L., A.V.P.).ORCID 0000-0003-4874-2487
Connie R Bezzina *Department of Clinical and Experimental Cardiology, Amsterdam University Medical Centers, University of Amsterdam, Heart Center, Amsterdam Cardiovascular Sciences, The Netherlands (D.S.-M., R.T., O.I.W., F.V.Y.T., N.L., E.M.L., L.B., B.J.B., B.J.M., C.R.B.).ORCID 0000-0002-0633-3514
Amsterdam University Medical Centers · NLLeiden University Medical Center · NLUtrecht University · NLHôpital Necker-Enfants Malades · FRUniversity Medical Center Groningen · NLCenter for Human Genetics · USFriedrich-Alexander-Universität Erlangen-Nürnberg · DEHubrecht Institute for Developmental Biology and Stem Cell Research · NLKing's College London · GBMontreal Heart Institute · CAUniversity Medical Center Utrecht · NLChildren's Hospital of Philadelphia · USChildren's Medical Research Institute · AUGerman Centre for Cardiovascular Research · DEInserm · FRMcMaster University Medical Centre · CARadboud University Nijmegen · NLUniversity Health Network · CAWestern University · CACentre for Human Drug Research · NL

Funding

Administrative Coordinating Center: Cardiovascular Development and Pediatric Cardiac Genomics ConsortiaU01HL131003 · NHLBI · CINCINNATI CHILDRENS HOSP MED CTR · PI CNOTA, JAMES, OLLBERDING, NICHOLAS J · 2016 to 2024
$54.8M
NHLBI Pediatric Translational Consortium Administrative Coordinating CenterU01HL098188 · NHLBI · NEW ENGLAND RESEARCH INSTITUTES, INC. · PI HAMZA, TAYE, MILLER, JULIE ELAINE · 2009 to 2015
$41.3M
Institutional Clinical and Translational Science AwardUL1TR000003 · NCATS · UNIVERSITY OF PENNSYLVANIA · PI FITZGERALD, GARRET A · 2012 to 2015
$38.9M
Molecular Analysis of Human Subtelomeric RearrangementsP50HL074731 · NHLBI · CHILDREN'S HOSP OF PHILADELPHIA · PI LEVY, ROBERT J · 2004 to 2008
$19.2M
ZIDOVUDINE VS 2',3'DIDEHYDRO-3'DEOXYTHYMIDINE IN CHILDRENM01RR000240 · NCRR · CHILDREN'S HOSP OF PHILADELPHIA · PI ALTSCHULER, STEVEN M · 1985 to 2006
$15.3M
Project 2: Genetic Mechanisms of Non-syndromic Congenital Cardiac DefectsP01HD070454 · NICHD · ALBERT EINSTEIN COLLEGE OF MEDICINE, INC · PI GOLDMUNTZ, ELIZABETH · 2011 to 2020
$14.0M
Yale Center for Mendelian DisordersU54HG006504 · NHGRI · YALE UNIVERSITY · PI GERSTEIN, MARK BENDER, GUNEL, MURAT · 2012 to 2015
$11.0M
Genomic Effects on Right Ventricular Function, Clinical Features and Outcomes in CHDU01HL098147 · NHLBI · BOSTON CHILDREN'S HOSPITAL · PI NEWBURGER, JANE W., ROBERTS, AMY E · 2009 to 2024
$6.7M
Genetic determinants of human heterotaxy and aortic arch malformationU01HL098162 · NHLBI · YALE UNIVERSITY · PI BRUECKNER, MARTINA, GRUBER, PETER J · 2009 to 2024
$5.9M
The Genetic Basis of Conotruncal DefectsU01HL098153 · NHLBI · CHILDREN'S HOSP OF PHILADELPHIA · PI GOLDMUNTZ, ELIZABETH · 2009 to 2014
$4.3M
Genomic studies of secundum atrial septal defectsU01HL098123 · NHLBI · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI GELB, BRUCE D · 2009 to 2014
$4.1M
Molecular approaches to gene identification in congenital heart diseaseU01HL098163 · NHLBI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI CHUNG, WENDY K, WARBURTON, DOROTHY P. · 2009 to 2014
$3.9M
British Heart Foundation CH/13/2/30154British Heart Foundation RG/15/12/31616British Heart Foundation RG/F/21/110050Medical Research Council G0500289Medical Research Council G0900635Medical Research Council G0900688Medical Research Council G1100695Medical Research Council MC_G1000733Medical Research Council MC_PC_17115Medical Research Council MR/L021803/1Medical Research Council MR/R024804/1Motor Neurone Disease Association ALCHALABI-DOBSON/APR14/829-791Motor Neurone Disease Association SHAW/APR15/970-797Motor Neurone Disease Association SHAW/NOV14/985-797NCATS NIH HHS UL1 TR000003NCRR NIH HHS M01 RR000240NHGRI NIH HHS U54 HG006504NHLBI NIH HHS P50 HL074731NHLBI NIH HHS U01 HL098123NHLBI NIH HHS U01 HL098147NHLBI NIH HHS U01 HL098153NHLBI NIH HHS U01 HL098162NHLBI NIH HHS U01 HL098163NHLBI NIH HHS U01 HL098188NHLBI NIH HHS U01 HL131003NHLBI NIH HHS UM1 HL098123NHLBI NIH HHS UM1 HL098147NHLBI NIH HHS UM1 HL098162NHLBI NIH HHS UM1 HL128711NHLBI NIH HHS UM1 HL128761NICHD NIH HHS P01 HD070454Wellcome Trust 076113Wellcome Trust 085475Wellcome Trust 090355
6 · The paper itself

Abstract

rationaleDextro-transposition of the great arteries (D-TGA) is a severe congenital heart defect which affects approximately 1 in 4,000 live births. While there are several reports of D-TGA patients with rare variants in individual genes, the majority of D-TGA cases remain genetically elusive. Familial recurrence patterns and the observation that most cases with D-TGA are sporadic suggest a polygenic inheritance for the disorder, yet this remains unexplored.

objectiveWe sought to study the role of common single nucleotide polymorphisms (SNPs) in risk for D-TGA. METHODS AND

resultsWe conducted a genome-wide association study in an international set of 1,237 patients with D-TGA and identified a genome-wide significant susceptibility locus on chromosome 3p14.3, which was subsequently replicated in an independent case-control set (rs56219800, meta-analysis P=8.6x10

conclusionsThis work provides support for a polygenic architecture in D-TGA and identifies a susceptibility locus on chromosome 3p14.3 near

Indexed as

Polymorphism, Single NucleotideAnimalsCells, CulturedHumansMiceMultifactorial InheritanceMyocytes, CardiacT-Box Domain ProteinsTransposition of Great VesselsWnt-5a ProteinZebrafishT-Box Domain ProteinsTBX20 protein, humanWnt-5a ProteinWNT5A protein, humancongenital heart diseasegenome-wide association studysingle nucleotide polymorphismtransposition of great vesselsWnt-5a protein

Identifiers

PMID34886679
PMCPMC8768504
OpenAlexW4200036706

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