Evidence map›Paper›PMID 33276527›Full record

ArticleJournal of cardiovascular development and disease2020

The Needle in the Haystack-Searching for Genetic and Epigenetic Differences in Monozygotic Twins Discordant for Tetralogy of Fallot.

Marcel Grunert, Sandra Appelt, Paul Grossfeld, Silke R Sperling

Open access · goldAbstract read
In one paragraph

Article in Journal of cardiovascular development and disease, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed
0.9field-weighted citation impact, top 26% 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

8 citing papers in PubMed, 12 citations in OpenAlex.

  1. Review
  2. Article
  3. Article
  4. Article
  5. Epigenetics and Congenital Heart Diseases.Journal of cardiovascular development and disease · 2022
    Review
  6. Article
  7. Review
  8. 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

4 authors at 2 institutions in 2 countries.

Marcel GrunertCardiovascular Genetics, Charité-Universitätsmedizin Berlin, 13125 Berlin, Germany.
Sandra AppeltCardiovascular Genetics, Charité-Universitätsmedizin Berlin, 13125 Berlin, Germany.
Paul GrossfeldDivision of Cardiology, University of California San Diego, Rady's Hospital MC 5004, San Diego, CA 92123, USA.
Silke R SperlingCardiovascular Genetics, Charité-Universitätsmedizin Berlin, 13125 Berlin, Germany.ORCID 0000-0002-7135-3298
German Centre for Cardiovascular Research · DEUniversity of California San Diego · US

Funding

Berlin Institute of Health BIH-CRG2-ConDi
6 · The paper itself

Abstract

Congenital heart defects (CHDs) are the most common birth defect in human with an incidence of almost 1% of all live births. Most cases have a multifactorial origin with both genetics and the environment playing a role in its development and progression. Adding an epigenetic component to this aspect is exemplified by monozygotic twins which share the same genetic background but have a different disease status. As a result, the interplay between the genetic, epigenetic and the environmental conditions might contribute to the etiology and phenotype. To date, the underlying causes of the majority of CHDs remain poorly understood. In this study, we performed genome-wide high-throughput sequencing to examine the genetic, structural genomic and epigenetic differences of two identical twin pairs discordant for Tetralogy of Fallot (TOF), representing the most common cyanotic form of CHDs. Our results show the almost identical genetic and structural genomic identity of the twins. In contrast, several epigenetic alterations could be observed given by DNA methylation changes in regulatory regions of known cardiac-relevant genes. Overall, this study provides first insights into the impact of genetic and especially epigenetic factors underlying monozygotic twins discordant for CHD like TOF.

Indexed as

candidate genescongenital heart diseasediscordant phenotypeDNA methylationepigeneticsgeneticsmonozygotic twinsTetralogy of Fallotvariations

Identifiers

PMID33276527
PMCPMC7761217
OpenAlexW3108293564

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.