Evidence map›Paper›PMID 39281767›Full record

ArticlemedRxiv : the preprint server for health sciences2024

Genome-wide association studies of Down syndrome associated congenital heart defects.

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 readPreprint
PubMed Full text at PMC Publisher
In one paragraph

Article in medRxiv : the preprint server for health sciences, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing 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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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, GA, 30322.ORCID 0000-0003-2969-415X
Yunqi LiCenter for Genetic Epidemiology, Keck School of Medicine of University of Southern California, Los Angeles, CA.ORCID 0000-0002-8887-9691
David J CutlerDepartment of Human Genetics, Emory University School of Medicine, Atlanta, GA, 30322.ORCID 0000-0001-6394-6731
Tracie C RosserDepartment of Human Genetics, Emory University School of Medicine, Atlanta, GA, 30322.
Stephanie B WechslerDepartment of Human Genetics, Emory University School of Medicine, Atlanta, GA, 30322.ORCID 0000-0002-9321-0220
Lauren SanclementeBaylor College of Medicine, Houston, TX.
Angela L RachubinskiLinda Crnic Institute for Down Syndrome, University of Colorado Anschutz Medical Campus, Aurora, CO.
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.ORCID 0000-0003-3931-0914
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.ORCID 0000-0002-6094-6397
Karen R RabinBaylor College of Medicine, Houston, TX.ORCID 0000-0002-4081-8195
Michael WagnerCincinnati Children's Hospital Medical Center, Cincinnati, OH.
Bruce D GelbIcahn School of Medicine at Mount Sinai, New York, NY.ORCID 0000-0001-8527-5027
Joaquin M EspinosaLinda Crnic Institute for Down Syndrome, University of Colorado Anschutz Medical Campus, Aurora, CO.ORCID 0000-0001-9048-1941
Philip J LupoBaylor College of Medicine, Houston, TX.ORCID 0000-0003-0978-5863
Adam J de SmithCenter for Genetic Epidemiology, Keck School of Medicine of University of Southern California, Los Angeles, CA.
Stephanie L ShermanDepartment of Human Genetics, Emory University School of Medicine, Atlanta, GA, 30322.
Elizabeth J LeslieDepartment of Human Genetics, Emory University School of Medicine, Atlanta, GA, 30322.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
NCI NIH HHS R01 CA249867NHLBI 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 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

birth defectcongenital heart defectDown syndromegenome-wide association studytrisomy 21

Identifiers

PMID39281767
PMCPMC11398599

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.