Evidence map›Paper›PMID 12730722›Full record

ArticleJournal of human genetics2003

Analysis of the MTHFR 1298A-->C and 677C-->T polymorphisms as risk factors for neural tube defects.

Anne Parle-McDermott, James L Mills, Peadar N Kirke, Valerie B O'Leary, Deborah A Swanson, Faith Pangilinan, Mary Conley, Anne M Molloy, Christopher Cox, John M Scott and 1 more

Abstract read
PubMed Publisher
In one paragraph

Article in Journal of human genetics, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
18citing papers in PubMed, 3 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

18 citing papers in PubMed, 3 syntheses or guidelines pooled it.

  1. Pooled it
  2. Pooled it
  3. Pooled it
  4. Article
  5. Article
  6. Article
  7. Review
  8. No evidence for association ofClinical epigenetics · 2018
    Article
  9. Article
  10. Neural tube defects, folic acid and methylation.International journal of environmental research and public health · 2013
    Review
  11. Article
  12. Article
  13. Article
  14. Testing reported associations of genetic risk factors for oral clefts in a large Irish study population.Birth defects research. Part A, Clinical and molecular teratology · 2010
    Article
  15. Review
  16. Article
  17. Folate-related gene polymorphisms as risk factors for cleft lip and cleft palate.Birth defects research. Part A, Clinical and molecular teratology · 2008
    Article
  18. 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

11 authors.

Anne Parle-McDermottDepartment of Biochemistry, Trinity College Dublin, Dublin, Ireland. parlema@tcd.ie
James L Mills
Peadar N Kirke
Valerie B O'Leary
Deborah A Swanson
Faith Pangilinan
Mary Conley
Anne M Molloy
Christopher Cox
John M Scott
Lawrence C Brody

Funding

The contribution folate and vitamin B12 genes to disease.ZIAHG000167 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI BRODY, LAWRENCE C · 2009 to 2025
$17.6M
The genetics of folate and vitamin B12 metabolism relateZ01HG000167 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI BRODY, LAWRENCE C · 2000 to 2008
$4.0M
NICHD Health Research Board Of Ireland Neural Tube Defects StudyZIAHD002502 · NICHD · EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH & HUMAN DEVELOPMENT · PI MILLS, JAMES · 2009 to 2022
$2.9M
NICHD-HEALTH RESEARCH BROAD OF IRELAND NEURAL TUBE DEFECTS STUDYZ01HD002502 · NICHD · EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH & HUMAN DEVELOPMENT · PI MILLS, JAMES L · 1993 to 2008
$1.2M
6 · The paper itself

Abstract

The thermolabile variant (677TT) of methylenetetrahydrofolate reductase (MTHFR) is a known risk factor for neural tube defects (NTDs). The relationship between a second MTHFR polymorphism (1298A-->C) and NTD risk has been inconsistent between studies. We genotyped 276 complete NTD triads (mother, father and child affected with an NTD) and 256 controls for MTHFR 1298A-->C. Our findings do not support a role for the 1298A-->C polymorphism in NTDs (OR 0.85 (95% CI 0.49-1.47), p= 0.55), nor do we observe a combined effect with the 677C-->T polymorphism.

Indexed as

Genetic Predisposition to DiseaseCase-Control StudiesDNA Mutational AnalysisFemaleGene FrequencyGenotypeHumansIrelandMaleMethylenetetrahydrofolate Reductase (NADPH2)Neural Tube DefectsPolymorphism, GeneticMethylenetetrahydrofolate Reductase (NADPH2)

Identifiers

What OpenQuestion holds

Textmetadata
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.