Evidence map›Paper›PMID 32516339›Full record

ArticlePloS one2020

Gene-based analyses of the maternal genome implicate maternal effect genes as risk factors for conotruncal heart defects.

Anshuman Sewda, A J Agopian, Elizabeth Goldmuntz, Hakon Hakonarson, Bernice E Morrow, Fadi Musfee, Deanne Taylor, Laura E Mitchell, Pediatric Cardiac Genomics Consortium

Open access · goldAbstract read
In one paragraph

Article in PloS one, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
0.7field-weighted citation impact, top 33% 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

5 citing papers in PubMed, 9 citations in OpenAlex.

  1. Article
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  3. Review
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  5. Article
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

9 authors at 3 institutions in 1 country.

Anshuman SewdaDepartment of Epidemiology, Human Genetics and Environmental Sciences, UTHealth School of Public Health, Houston, Texas, United States of America.ORCID 0000-0002-2272-5382
A J AgopianDepartment of Epidemiology, Human Genetics and Environmental Sciences, UTHealth School of Public Health, Houston, Texas, United States of America.ORCID 0000-0002-5874-4155
Elizabeth GoldmuntzDepartment of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, United States of America.
Hakon HakonarsonDepartment of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, United States of America.
Bernice E MorrowDepartment of Genetics, Albert Einstein College of Medicine, Bronx, New York, United States of America.ORCID 0000-0002-8076-4726
Fadi MusfeeDepartment of Epidemiology, Human Genetics and Environmental Sciences, UTHealth School of Public Health, Houston, Texas, United States of America.ORCID 0000-0001-8210-3772
Deanne TaylorDepartment of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, United States of America.ORCID 0000-0002-3302-4610
Laura E MitchellDepartment of Epidemiology, Human Genetics and Environmental Sciences, UTHealth School of Public Health, Houston, Texas, United States of America.ORCID 0000-0003-1151-5096
Pediatric Cardiac Genomics Consortium
University of Texas Health Science Center at Dallas · USChildren's Hospital of Philadelphia · USAlbert Einstein College of Medicine · 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
INSTITUTIONAL CLINICAL AND TRANSLATIONAL SCIENCE AWARDUL1RR024134 · NCRR · UNIVERSITY OF PENNSYLVANIA · PI FITZGERALD, GARRET A · 2006 to 2011
$70.4M
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 MORROW, BERNICE E · 2011 to 2020
$14.0M
Yale Center for Mendelian DisordersU54HG006504 · NHGRI · YALE UNIVERSITY · PI GERSTEIN, MARK BENDER, GUNEL, MURAT · 2012 to 2015
$11.0M
Mapping Transcriptional Networks in Cardiac DevelopmentU01HL098166 · NHLBI · HARVARD MEDICAL SCHOOL · PI SEIDMAN, JONATHAN G · 2009 to 2014
$9.5M
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
The Intellectual and Developmental Disabilities Research Center at CHOP/PennU54HD086984 · NICHD · CHILDREN'S HOSP OF PHILADELPHIA · PI ROBINSON, MICHAEL BYRNE · 2016 to 2020
$6.3M
NCATS NIH HHS UL1 TR000003NCATS NIH HHS UL1 TR001863NCRR NIH HHS M01 RR000240NCRR NIH HHS UL1 RR024134NHGRI 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 HL098166NHLBI NIH HHS U01 HL098188NHLBI NIH HHS U01 HL131003NICHD NIH HHS P01 HD070454NICHD NIH HHS R03 HD098552NICHD NIH HHS R21 HD097347NICHD NIH HHS U54 HD086984
6 · The paper itself

Abstract

Congenital heart defects (CHDs) affect approximately 1% of newborns. Epidemiological studies have identified several genetically-mediated maternal phenotypes (e.g., pregestational diabetes, chronic hypertension) that are associated with the risk of CHDs in offspring. However, the role of the maternal genome in determining CHD risk has not been defined. We present findings from gene-level, genome-wide studies that link CHDs to maternal effect genes as well as to maternal genes related to hypertension and proteostasis. Maternal effect genes, which provide the mRNAs and proteins in the oocyte that guide early embryonic development before zygotic gene activation, have not previously been implicated in CHD risk. Our findings support a role for and suggest new pathways by which the maternal genome may contribute to the development of CHDs in offspring.

Indexed as

AdultCase-Control StudiesChild, PreschoolFamilyFemaleGenetic TestingHeart Defects, CongenitalHumansHypertensionInfantInfant, NewbornMaleMaternal ExposureMaternal InheritanceMiddle AgedOocytes

Identifiers

PMID32516339
PMCPMC7282656
OpenAlexW3032979276

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

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.