Evidence map›Paper›PMID 35130025›Full record

Observational studyCirculation. Genomic and precision medicine2022

Genome-Wide De Novo Variants in Congenital Heart Disease Are Not Associated With Maternal Diabetes or Obesity.

Sarah U Morton, Alexandre C Pereira, Daniel Quiat, Felix Richter, Alexander Kitaygorodsky, Jacob Hagen, Daniel Bernstein, Martina Brueckner, Elizabeth Goldmuntz, Richard W Kim and 10 more

Registry-linked trialOpen access · bronzeAbstract readObservational Study
In one paragraph

Observational study in Circulation. Genomic and precision medicine, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT01196182 (Congenital Heart Disease GEnetic NEtwork Study), which is not on this map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed
0.7field-weighted citation impact, top 34% 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.

NCT01196182 active not recruitingnot on this map

Congenital Heart Disease GEnetic NEtwork Study (CHD GENES)

TypeobservationalSponsorChildren's Hospital Medical Center, CincinnatiRan2010 to 2032Enrolled32,000ConditionsCongenital Heart Defects
3 · Its place in the literature

Who cites it

7 citing papers in PubMed, 8 citations in OpenAlex.

  1. Genetic and Environmental Contributors To Congenital Heart Disease.Current treatment options in cardiovascular medicine · 2025
    Review
  2. Article
  3. In-Depth Genomic Analysis: The New Challenge in Congenital Heart Disease.International journal of molecular sciences · 2024
    Review
  4. Review
  5. The genetics and pathogenesis of CAKUT.Nature reviews. Nephrology · 2023
    Review
  6. Article
  7. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

20 authors at 12 institutions in 1 country.

Sarah U MortonDivision of Newborn Medicine, Department of Medicine (S.U.M.), Boston Children's Hospital.ORCID 0000-0002-7816-2646
Alexandre C PereiraDepartment of Genetics (A.C.P., J.G.S., C.E.S.), Harvard Medical School, Boston, MA.ORCID 0000-0002-7782-5540
Daniel QuiatDepartment of Cardiology (D.Q., A.R., J.W.N.), Boston Children's Hospital.ORCID 0000-0002-4224-7277
Felix RichterGraduate School of Biomedical Sciences (F.R.), Icahn School of Medicine at Mount Sinai, New York, NY.ORCID 0000-0003-3429-9621
Alexander KitaygorodskyDepartments of Systems Biology and Biomedical Informatics (A.K., J.H., Y.S.), Columbia University Medical Center, New York, NY.ORCID 0000-0002-0804-3529
Jacob HagenDepartments of Systems Biology and Biomedical Informatics (A.K., J.H., Y.S.), Columbia University Medical Center, New York, NY.
Daniel BernsteinDepartment of Pediatrics (Cardiology), Stanford University, CA (D.B.).ORCID 0000-0001-7761-5853
Martina BruecknerDepartments of Genetics and Pediatrics, Yale University School of Medicine, New Haven, CT (M.B.).
Elizabeth GoldmuntzDivision of Cardiology, Department of Pediatrics, Children's Hospital of Philadelphia, Perelman School of Medicine, Univeristy of Pennsylvania (E.G.).ORCID 0000-0003-2936-4396
Richard W KimCedars-Sinai Medical Center, Los Angeles, CA (R.W.K.).
Richard P LiftonLaboratory of Human Genetics and Genomics, The Rockefeller University, New York, NY (R.P.L.).ORCID 0000-0002-5745-5984
George A PorterDepartment of Pediatrics, University of Rochester Medical Center, The School of Medicine and Dentistry, Rochester, NY (G.A.P.).ORCID 0000-0003-0726-9988
Martin Tristani-FirouziDivision of Pediatric Cardiology, University of Utah, Salt Lake City (M.T.-F.).
Wendy K ChungDepartments of Pediatrics and Medicine (W.K.C.), Columbia University Medical Center, New York, NY.ORCID 0000-0003-3438-5685
Amy RobertsDepartment of Cardiology (D.Q., A.R., J.W.N.), Boston Children's Hospital.ORCID 0000-0001-5827-8521
Bruce D GelbDepartment of Pediatrics, Mindich Child Health and Development Institute (B.D.G.), Icahn School of Medicine at Mount Sinai, New York, NY.ORCID 0000-0001-8527-5027
Yufeng ShenDepartments of Systems Biology and Biomedical Informatics (A.K., J.H., Y.S.), Columbia University Medical Center, New York, NY.ORCID 0000-0002-1299-5979
Jane W NewburgerDepartment of Pediatrics (S.U.M., D.Q., A.R., J.W.N.), Harvard Medical School, Boston, MA.ORCID 0000-0002-7794-9017
J G Seidman *Department of Genetics (A.C.P., J.G.S., C.E.S.), Harvard Medical School, Boston, MA.ORCID 0000-0002-9082-3566
Christine E Seidman *Department of Genetics (A.C.P., J.G.S., C.E.S.), Harvard Medical School, Boston, MA.ORCID 0000-0001-6380-1209
Columbia University Irving Medical Center · USHarvard University · USBoston Children's Hospital · USCedars-Sinai Medical Center · USChild Health and Development Institute · USChildren's Hospital of Philadelphia · USIcahn School of Medicine at Mount Sinai · USRockefeller University · USStanford University · USUniversity of Rochester Medical Center · USUniversity of Utah · USYale University · US

Funding

Yale Clinical and Translational Science Award (U Component)UL1TR001863 · NCATS · YALE UNIVERSITY · PI John H. Krystal, LUCILA OHNO-MACHADO · 2016 to 2026
$102.9M
The Harvard Clinical and Translational Science CenterUL1TR002541 · NCATS · HARVARD MEDICAL SCHOOL · PI NADLER, LEE MARSHALL · 2018 to 2022
$93.0M
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
RESEARCH METHODS IN PEDIATRICS HEART DISEASET32HL007572 · NHLBI · CHILDREN'S HOSPITAL BOSTON · PI Sarah D DE FERRANTI, Jane W. Newburger · 1985 to 2026
$13.0M
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
Howard Hughes Medical InstituteNCATS NIH HHS UL1 TR000003NCATS NIH HHS UL1 TR001863NCATS NIH HHS UL1 TR002541NHGRI NIH HHS U54 HG006504NHLBI NIH HHS P20 HL101408NHLBI NIH HHS R03 HL150412NHLBI NIH HHS T32 HL007572NHLBI 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 HL098147NHLBI NIH HHS UM1 HL172717
6 · The paper itself

Abstract

backgroundCongenital heart disease (CHD) is the most common anomaly at birth, with a prevalence of ≈1%. While infants born to mothers with diabetes or obesity have a 2- to 3-fold increased incidence of CHD, the cause of the increase is unknown. Damaging de novo variants (DNV) in coding regions are more common among patients with CHD, but genome-wide rates of coding and noncoding DNVs associated with these prenatal exposures have not been studied in patients with CHD.

methodsDNV frequencies were determined for 1812 patients with CHD who had whole-genome sequencing and prenatal history data available from the Pediatric Cardiac Genomics Consortium's CHD GENES study (Genetic Network). The frequency of DNVs was compared between subgroups using

resultsAmong 1812 patients with CHD, the number of DNVs per patient was higher with maternal diabetes (76.5 versus 72.1,

conclusionsAfter accounting for parental age, the offspring of diabetic or obese mothers have no increase in DNVs compared with other children with CHD. These results emphasize the role for other mechanisms in the cause of CHD associated with these prenatal exposures. REGISTRATION: URL: https://clinicaltrials.gov; NCT01196182.

Indexed as

Diabetes MellitusHeart Defects, CongenitalBody Mass IndexChildFemaleGene Regulatory NetworksHumansInfantInfant, NewbornMothersObesityPregnancybody mass indexgenomeheart defects, congenitalobesityprevalence

Identifiers

PMID35130025
PMCPMC9295870
OpenAlexW4210881671

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

Registered trials

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.