Evidence map›Paper›PMID 33925651›Full record

SynthesisGenes2021

Common Variation in Cytoskeletal Genes is Associated with Conotruncal Heart Defects.

Fadi I Musfee, A J Agopian, Elizabeth Goldmuntz, Hakon Hakonarson, Bernice E Morrow, Deanne M Taylor, Martin Tristani-Firouzi, W Scott Watkins, Mark Yandell, Laura E Mitchell

Open access · goldAbstract readMeta-Analysis
PubMed Full text at PMC Publisher
In one paragraph

Synthesis in Genes, 2021. 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
0.2field-weighted citation impact, top 52% 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

3 citing papers in PubMed, 3 citations in OpenAlex.

  1. Article
  2. Review
  3. A novelExperimental and therapeutic medicine · 2022
    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

10 authors at 5 institutions in 1 country.

Fadi I MusfeeDepartment of Epidemiology, Human Genetics and Environmental Sciences, UTHealth School of Public Health, Houston, TX 77030, USA.
A J AgopianDepartment of Epidemiology, Human Genetics and Environmental Sciences, UTHealth School of Public Health, Houston, TX 77030, USA.
Elizabeth GoldmuntzDepartment of Pediatrics, Perelman School of Medicine at University of Pennsylvania, Philadelphia, PA 19104, USA.
Hakon HakonarsonDepartment of Pediatrics, Perelman School of Medicine at University of Pennsylvania, Philadelphia, PA 19104, USA.
Bernice E MorrowDepartment of Genetics, Albert Einstein College of Medicine, Bronx, NY 10461, USA.
Deanne M TaylorDepartment of Pediatrics, Perelman School of Medicine at University of Pennsylvania, Philadelphia, PA 19104, USA.ORCID 0000-0002-3302-4610
Martin Tristani-FirouziDivision of Pediatric Cardiology, University of Utah School of Medicine, Salt Lake City, UT 84113, USA.ORCID 0000-0001-5916-442X
W Scott WatkinsDepartment of Human Genetics, University of Utah, Salt Lake City, UT 84112, USA.
Mark YandellDepartment of Human Genetics, University of Utah, Salt Lake City, UT 84112, USA.
Laura E MitchellDepartment of Epidemiology, Human Genetics and Environmental Sciences, UTHealth School of Public Health, Houston, TX 77030, USA.
University of Texas Health Science Center at Dallas · USUniversity of Utah · USChildren's Hospital of Philadelphia · USAlbert Einstein College of Medicine · USUniversity of Pennsylvania · US

Funding

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
NICHD NIH HHS P01 HD070454NIH HHS P01HD070454NIH HHS P50HL74713, UL1RR02134, UL1TR000003NIH HHS U01-HL098153, HL128711, HL098188, HL131003, HL098147, HL098162, HL098162
6 · The paper itself

Abstract

There is strong evidence for a genetic contribution to non-syndromic congenital heart defects (CHDs). However, exome- and genome-wide studies conducted at the variant and gene-level have identified few genome-wide significant CHD-related genes. Gene-set analyses are a useful complement to such studies and candidate gene-set analyses of rare variants have provided insight into the genetics of CHDs. However, similar analyses have not been conducted using data on common genetic variants. Consequently, we conducted common variant analyses of 15 CHD candidate gene-sets, using data from two common types of CHDs: conotruncal heart defects (1431 cases) and left ventricular outflow tract defects (509 cases). After Bonferroni correction for evaluation of multiple gene-sets, the cytoskeletal gene-set was significantly associated with conotruncal heart defects (β

Indexed as

Case-Control StudiesCytoskeletonGenome, HumanGenotypeHeart Defects, CongenitalHumansPolymorphism, Single NucleotideRisk Factorsassociationcase-controlcase-parent trioscongenitalconotruncalgenegeneticsgenome-wideheartmalformation

Identifiers

PMID33925651
PMCPMC8146932
OpenAlexW3158288665

What OpenQuestion holds

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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.