Evidence map›Paper›PMID 32061804›Full record

ReviewBiochimie2020

One-carbon metabolism and folate transporter genes: Do they factor prominently in the genetic etiology of neural tube defects?

John W Steele, Sung-Eun Kim, Richard H Finnell

Open access · greenAbstract readReview
In one paragraph

Review in Biochimie, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.

0numbers the graph read from it
0cells of the map it votes in
16citing papers in PubMed
4.7field-weighted citation impact, top 4% 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

16 citing papers in PubMed, 39 citations in OpenAlex.

  1. Review
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  3. Review
  4. Review
  5. Article
  6. Article
  7. HIV-1 Integrase Strand Transfer Inhibitors and Neurodevelopment.Pharmaceuticals (Basel, Switzerland) · 2022
    Review
  8. Article
  9. Doubly bi-allelic variants ofFrontiers in genetics · 2022
    Article
  10. Article
  11. Review
  12. Article
  13. Article
  14. Review
  15. Review
  16. 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

3 authors at 2 institutions in 1 country.

John W SteeleCenter for Precision Environmental Health, Baylor College of Medicine, Houston, TX, 77030, USA; Institute for Cellular and Molecular Biology, The University of Texas at Austin, Austin, TX, 78712, USA. Electronic address: John.Steele@bcm.edu.
Sung-Eun KimDepartment of Pediatrics, The University of Texas at Austin/Dell Medical School, Austin, TX, 78723, USA. Electronic address: sungeun.kim@austin.utexas.edu.
Richard H FinnellCenter for Precision Environmental Health, Baylor College of Medicine, Houston, TX, 77030, USA; Department of Molecular and Cellular Biology, Molecular and Human Genetics, and Medicine, Baylor College of Medicine, Houston, TX, 77030, USA. Electronic address: Richard.Finnell@bcm.edu.
The University of Texas at Austin · USBaylor College of Medicine · US

Funding

Risk Genes and Environment Interactions in NTDsP01HD067244 · NICHD · WEILL MEDICAL COLL OF CORNELL UNIV · PI ROSS, MARGARET ELIZABETH · 2011 to 2020
$12.6M
INTERVENTION STRATEGIES FOR NON-FOLATE RESPONSIVE NEURAL TUBE DEFECTSR01HD083809 · NICHD · UNIVERSITY OF TEXAS AT AUSTIN · PI FINNELL, RICHARD H. · 2016 to 2024
$5.1M
Biomechanics of Neural Tube Development using Brillouin-OCT MultimodalityR01HD095520 · NICHD · UNIVERSITY OF HOUSTON · PI FINNELL, RICHARD H., LARIN, KIRILL V · 2018 to 2022
$3.3M
Training in Precision Environmental Health SciencesT32ES027801 · NIEHS · BAYLOR COLLEGE OF MEDICINE · PI Cheryl L. Walker · 2018 to 2026
$2.8M
Folic Acid, Parental Mutation Rates and the Risk for Neural Tube DefectsR01HD081216 · NICHD · UNIVERSITY OF TEXAS AT AUSTIN · PI FINNELL, RICHARD H., LEI, YUNPING · 2015 to 2019
$2.5M
The Role of GPR161 in the Etiology of Neural Tube DefectsR01HD093758 · NICHD · BAYLOR COLLEGE OF MEDICINE · PI FINNELL, RICHARD H., KIM, SUNG EUN · 2018 to 2022
$1.9M
NICHD NIH HHS P01 HD067244NICHD NIH HHS R01 HD081216NICHD NIH HHS R01 HD083809NICHD NIH HHS R01 HD093758NICHD NIH HHS R01 HD095520NIEHS NIH HHS T32 ES027801
6 · The paper itself

Abstract

Neural tube defects (NTDs) are a broad class of congenital birth defects that result from the failure of neural tube closure during neurulation. Folic acid supplementation has been shown to prevent the occurrence of NTDs by as much as 70% in some human populations, and folate deficiency in a pregnant woman is associated with increased risk for having an NTD affected infant. Thus, folate transport-related genes and genes involved in the subsequent folate-mediated one-carbon metabolic pathway have long been considered primary candidates to study the genetic etiology of human NTDs. Herein, we review the genes involved in folate transport and one-carbon metabolism thus far identified as contributing variants that influence human NTD risk, and place these findings in the context of our evolving understanding of the complex genetic architecture underlying these defects.

Indexed as

Biological TransportFemaleFolic AcidFolic Acid DeficiencyHumansMetabolic Networks and PathwaysNeural Tube DefectsPregnancyFolic AcidFolate transportersGenomicsNeural tube defectsOne-carbon metabolism

Identifiers

PMID32061804
PMCPMC7253344
OpenAlexW3006522693

What OpenQuestion holds

Textmetadata
LicenceTDM
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.