Evidence map›Paper›PMID 40407036›Full record

ArticleGenetic epidemiology2025

Genome-Wide Association Studies of Down Syndrome Associated Congenital Heart Defects Suggests a Genetically Heterogeneous Risk for CHD in DS.

Elizabeth R Feldman, Yunqi Li, David J Cutler, Tracie C Rosser, Stephanie B Wechsler, Lauren Sanclemente, Angela L Rachubinski, Natalina Elliott, Paresh Vyas, Irene Roberts and 8 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Genetic epidemiology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
–field-weighted citation impact
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

3 citing papers in PubMed.

  1. Article
  2. Review
  3. Review
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

18 authors.

Elizabeth R FeldmanDepartment of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA.
Yunqi LiCenter for Genetic Epidemiology, Keck School of Medicine of University of Southern California, Los Angeles, California, USA.
David J CutlerDepartment of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA.
Tracie C RosserDepartment of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA.
Stephanie B WechslerDepartment of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA.
Lauren SanclementeBaylor College of Medicine, Houston, Texas, USA.
Angela L RachubinskiLinda Crnic Institute for Down Syndrome, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA.
Natalina ElliottDepartment of Paediatrics and MRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, Oxford University and BRC Blood Theme, NIHR Oxford Biomedical Centre, Oxford, UK.
Paresh VyasDepartment of Paediatrics and MRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, Oxford University and BRC Blood Theme, NIHR Oxford Biomedical Centre, Oxford, UK.
Irene RobertsDepartment of Paediatrics and MRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, Oxford University and BRC Blood Theme, NIHR Oxford Biomedical Centre, Oxford, UK.
Karen R RabinBaylor College of Medicine, Houston, Texas, USA.
Michael WagnerCincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.
Bruce D GelbIcahn School of Medicine at Mount Sinai, New York, New York, USA.
Joaquin M EspinosaLinda Crnic Institute for Down Syndrome, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA.
Philip J LupoBaylor College of Medicine, Houston, Texas, USA.
Adam J de SmithCenter for Genetic Epidemiology, Keck School of Medicine of University of Southern California, Los Angeles, California, USA.
Stephanie L ShermanDepartment of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA.
Elizabeth J Leslie-ClarksonDepartment of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA.ORCID 0000-0002-5735-1712

Funding

Molecular epidemiology of acute lymphoblastic leukemia in children with Down syndromeR01CA249867 · NCI · BAYLOR COLLEGE OF MEDICINE · PI LUPO, PHILIP, RABIN, KAREN R · 2020 to 2024
$4.2M
Identifying and applying genetic variation relevant to clinical outcomes for individuals with congenital heart diseaseU01HL153009 · NHLBI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI CHUNG, WENDY K, GELB, BRUCE D · 2020 to 2024
$2.3M
Discovery of susceptibility genes for Down syndrome-associated congenital heart defects using whole genome sequencingR03HL156476 · NHLBI · EMORY UNIVERSITY · PI CUTLER, DAVID JOSEPH, LESLIE-CLARKSON, ELIZABETH JANE · 2020 to 2020
$312k
Rare variants associated with AVSD in Down SyndromeF31HL168878 · NHLBI · EMORY UNIVERSITY · PI FELDMAN, ELIZABETH · 2024 to 2025
$99k
NCI NIH HHS R01 CA249867NHLBI NIH HHS F31 HL168878NHLBI NIH HHS R03 HL156476NHLBI NIH HHS U01 HL153009
6 · The paper itself

Abstract

Congenital heart defects (CHDs) are the most common structural birth defect and are present in 40%-50% of children born with Down syndrome (DS). To characterize the genetic architecture of DS-associated CHD, we sequenced genomes of a multiethnic group of children with DS and a CHD (n = 886: atrioventricular septal defects (AVSD), n = 438; atrial septal defects (ASD), n = 122; ventricular septal defects (VSD), n = 170; other types of CHD, n = 156) and DS with a structurally normal heart (DS + NH, n = 572). We performed four genome-wide association study (GWAS) for common variants (MAF > 0.05) comparing DS with CHD, stratified by CHD-subtype, to DS + NH controls. Although no SNP achieved genome-wide significance, multiple loci in each analysis achieved suggestive significance (p < 2 × 10

Indexed as

Down SyndromeHeart Defects, CongenitalCase-Control StudiesChildChild, PreschoolFemaleGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansMalePolymorphism, Single NucleotideRisk Factorsbirth defectcongenital heart defectDown syndromegenome‐wide association studytrisomy 21

Identifiers

PMID40407036
PMCPMC12278782

What OpenQuestion holds

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Registered trials

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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.