Evidence map›Paper›PMID 24479926›Full record

ArticleJournal of translational medicine2014

Association of promoter methylation statuses of congenital heart defect candidate genes with Tetralogy of Fallot.

Wei Sheng, Yanyan Qian, Ping Zhang, Yao Wu, Huijun Wang, Xiaojing Ma, Long Chen, Duan Ma, Guoying Huang

Abstract read
In one paragraph

Article in Journal of translational medicine, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
28citing papers in PubMed, 1 pooled it
–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

28 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
  2. Review
  3. Review
  4. Article
  5. Review
  6. Article
  7. Article
  8. Human Genetics of Tetralogy of Fallot and Double-Outlet Right Ventricle.Advances in experimental medicine and biology · 2024
    Review
  9. Human Genetics of Congenital Heart Defects.Advances in experimental medicine and biology · 2024
    Review
  10. Article
  11. Article
  12. Article
  13. Article
  14. Review
  15. Mending a broken heart:Disease models & mechanisms · 2021
    Review
  16. Review
  17. Article
  18. Article
  19. NRP1 haploinsufficiency predisposes to the development of Tetralogy of Fallot.American journal of medical genetics. Part A · 2018
    Article
  20. 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.

Wei Sheng
Yanyan Qian
Ping Zhang
Yao Wu
Huijun Wang
Xiaojing Ma
Long ChenChildren Hospital of Fudan University, Shanghai 201102, China. chenlong@shmu.edu.cn.
Duan Ma
Guoying Huang

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundAlthough a lower methylation level of whole genome has been demonstrated in Tetralogy of Fallot (TOF) patients, little is known regarding changes in specific gene DNA methylation profiles and the possible associations with TOF. In current study, the promoter methylation statuses of congenital heart defect (CHD) candidate genes were measured in order to further understand epigenetic mechanisms that may play a role in the development of TOF.

methodsThe methylation levels of CHD candidate genes were measured using the Sequenom MassARRAY platform. QRT-PCR was used to analyze the mRNA levels of CHD candidate genes in the right ventricular myocardium of TOF cases and normal controls.

resultsMethylation status analysis was performed on the promoter regions of 71 CHD candidate genes (113 amplicons). We found significant differences in methylation status, between TOF cases and controls, in 26 amplicons (26 genes) (p < 0.05). Of the 26 amplicons, 17 were up regulated and 9 were down regulated. Additionally, 14 of them were located in the CpG islands, 7 were located in the CpG island shores, and 5 were covering the regions near the transcription start site (TSS). The methylation status was subsequently confirmed and mRNA levels were measured for 7 represented candidate genes, including EGFR, EVC2, NFATC2, NR2F2, TBX5, CFC1B and GJA5. The methylation values of EGFR, EVC2, TBX5 and CFC1B were significantly correlated with their mRNA levels (p < 0.05).

conclusionsAberrant promoter methylation statuses of CHD candidate genes presented in TOF cases may contribute to the TOF development and have potential prognostic and therapeutic significance for TOF disease.

Indexed as

Genetic Association StudiesPromoter Regions, GeneticCase-Control StudiesChild, PreschoolCpG IslandsDNA MethylationFemaleGene Expression RegulationHumansMaleReproducibility of ResultsRNA, MessengerTetralogy of FallotTranscription Initiation SiteRNA, Messenger

Identifiers

PMID24479926
PMCPMC3915623

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.