Evidence map›Paper›PMID 18203168›Full record

ArticleAmerican journal of medical genetics. Part A2008

Folate and one-carbon metabolism gene polymorphisms and their associations with oral facial clefts.

Abee L Boyles, Allen J Wilcox, Jack A Taylor, Klaus Meyer, Ase Fredriksen, Per Magne Ueland, Christian A Drevon, Stein Emil Vollset, Rolv Terje Lie

Abstract read
In one paragraph

Article in American journal of medical genetics. Part A, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
23citing papers in PubMed, 2 pooled it
5.8field-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

23 citing papers in PubMed, 2 syntheses or guidelines pooled it, 75 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Article
  4. Genome-Wide Scan for Parent-of-Origin Effects in a sub-Saharan African Cohort With Nonsyndromic Cleft Lip and/or Cleft Palate (CL/P).The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association · 2022
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  16. Nonsyndromic cleft lip and palate: CRISPLD genes and the folate gene pathway connection.Birth defects research. Part A, Clinical and molecular teratology · 2011
    Article
  17. Folate pathway and nonsyndromic cleft lip and palate.Birth defects research. Part A, Clinical and molecular teratology · 2011
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  19. Review
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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 at 4 institutions in 2 countries.

Abee L BoylesEpidemiology Branch, National Institute of Environmental Health Sciences/NIH, Durham, North Carolina 27709, USA. boylesa@niehs.nih.gov
Allen J Wilcox
Jack A Taylor
Klaus Meyer
Ase Fredriksen
Per Magne Ueland
Christian A Drevon
Stein Emil Vollset
Rolv Terje Lie
University of Bergen · NONational Institute of Environmental Health Sciences · USHaukeland University Hospital · NOUniversity of Oslo · NO

Funding

Genetic Susceptibility And The Environment In Cancer RiskZIAES049033 · NIEHS · NATIONAL INSTITUTE OF ENVIRONMENTAL HEALTH SCIENCES · PI TAYLOR, JACK A · 2009 to 2022
$7.7M
Environmental And Genetic Causes Of Birth DefectsZIAES049027 · NIEHS · NATIONAL INSTITUTE OF ENVIRONMENTAL HEALTH SCIENCES · PI WILCOX, ALLEN J · 2009 to 2020
$2.6M
Intramural NIH HHS Z99 ES999999
6 · The paper itself

Abstract

Folate metabolism plays a critical role in embryonic development. Prenatal folate supplementation reduces the risk of neural tube defects and probably oral facial clefts. Previous studies of related metabolic genes have associated polymorphisms in cystathionine-beta-synthase (CBS) and 5,10-methylenetetrahydrofolate reductase (MTHFR) with cleft risk. We explored associations between genes related to one-carbon metabolism and clefts in a Norwegian population-based study that included 362 families with cleft lip with or without cleft palate (CL/P) and 191 families with cleft palate only (CPO). We previously showed a 39% reduction in risk of CL/P with folic acid supplementation in this population. In the present study we genotyped 12 polymorphisms in nine genes related to one-carbon metabolism and looked for associations of clefting risk with fetal polymorphisms, maternal polymorphisms, as well as parent-of-origin effects, using combined likelihood-ratio tests (LRT). We also stratified by maternal periconceptional intake of folic acid (>400 microg) to explore gene-exposure interactions. We found a reduced risk of CL/P with mothers who carried the CBS C699T variant (rs234706); relative risk was 0.94 with one copy of the T allele (95% CI 0.63-1.4) and 0.50 (95% CI 0.26-0.96) with two copies (P = 0.008). We found no evidence of interaction of this variant with folate status. We saw no evidence of risk from the MTHFR C677T variant (rs1801133) either overall or after stratifying by maternal folate intake. No associations were found between any of the polymorphisms and CPO. Genetic variations in the nine metabolic genes examined here do not confer a substantial degree of risk for clefts.

Indexed as

Polymorphism, GeneticCarbonCase-Control StudiesCleft LipCleft PalateDietary SupplementsFemaleFolic AcidGene FrequencyHumansInfant, NewbornMaleMetabolic Networks and PathwaysModels, BiologicalPregnancyCarbonFolic Acid

Identifiers

PMID18203168
PMCPMC2366099
OpenAlexW2128915851

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.