Evidence map›Paper›PMID 30638414›Full record

ArticleEpigenomics2019

Evidence for DNA methylation mediating genetic liability to non-syndromic cleft lip/palate.

Laurence J Howe, Tom G Richardson, Ryan Arathimos, Lucas Alvizi, Maria R Passos-Bueno, Philip Stanier, Ellen Nohr, Kerstin U Ludwig, Elisabeth Mangold, Michael Knapp and 8 more

Open access · hybridAbstract read
In one paragraph

Article in Epigenomics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
19citing papers in PubMed, 1 pooled it
3.9field-weighted citation impact, top 6% 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

19 citing papers in PubMed, 1 synthesis or guideline pooled it, 34 citations in OpenAlex.

  1. Pooled it
  2. Review
  3. Review
  4. Genetic-epigenetic interactions (meQTLs) in orofacial clefts etiology.medRxiv : the preprint server for health sciences · 2025
    Article
  5. Article
  6. Disruption of DNA methylation-mediated cranial neural crest proliferation and differentiation causes orofacial clefts in mice.Proceedings of the National Academy of Sciences of the United States of America · 2024
    Article
  7. Article
  8. The impact of developmental genes in non-syndromic cleft lip and/or palateJournal of the Turkish German Gynecological Association · 2023
    Article
  9. Review
  10. mEpigenetics · 2022
    Article
  11. Alterations in DNA Methylation in Orofacial Clefts.International journal of molecular sciences · 2022
    Review
  12. Article
  13. Article
  14. Article
  15. Review
  16. Article
  17. Article
  18. Article
  19. Facial Genetics: A Brief Overview.Frontiers in genetics · 2018
    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

18 authors at 9 institutions in 5 countries.

Laurence J HoweMRC Integrative Epidemiology Unit, Population Health Sciences, University of Bristol, BS8 2BN, UK.
Tom G RichardsonMRC Integrative Epidemiology Unit, Population Health Sciences, University of Bristol, BS8 2BN, UK.
Ryan ArathimosMRC Integrative Epidemiology Unit, Population Health Sciences, University of Bristol, BS8 2BN, UK.
Lucas AlviziCentro de Pesquisas Sobre o Genoma Humano eCélulas-Tronco, Instituto de Biociências, Universidade de São Paulo, São Paulo, Brazil.
Maria R Passos-Bueno
Philip StanierGenetics & Genomic Medicine, UCL Great Ormond Street Institute of Child Health, University College London, London, WC1N 3JH, UK.
Ellen NohrInstitute of Public Health, Aarhus University, Aarhus, Denmark.
Kerstin U LudwigInstitute of Human Genetics, University of Bonn, 53127 Bonn, Germany.
Elisabeth MangoldInstitute of Human Genetics, University of Bonn, 53127 Bonn, Germany.
Michael KnappInstitute of Medical Biometry, Informatics & Epidemiology, University of Bonn, 53127 Bonn, Germany.
Evie StergiakouliMRC Integrative Epidemiology Unit, Population Health Sciences, University of Bristol, BS8 2BN, UK.
Beate St PourcainMRC Integrative Epidemiology Unit, Population Health Sciences, University of Bristol, BS8 2BN, UK.
George Davey SmithMRC Integrative Epidemiology Unit, Population Health Sciences, University of Bristol, BS8 2BN, UK.
Jonathan SandyBristol Dental School, University of Bristol, BS8 2BN, UK.
Caroline L ReltonMRC Integrative Epidemiology Unit, Population Health Sciences, University of Bristol, BS8 2BN, UK.
Sarah J LewisMRC Integrative Epidemiology Unit, Population Health Sciences, University of Bristol, BS8 2BN, UK.
Gibran HemaniMRC Integrative Epidemiology Unit, Population Health Sciences, University of Bristol, BS8 2BN, UK.
Gemma C SharpMRC Integrative Epidemiology Unit, Population Health Sciences, University of Bristol, BS8 2BN, UK.
MRC Epidemiology Unit · GBUniversity of Bristol · GBUniversity College London · GBUniversity of Bonn · DEAarhus University · DKLife & Brain (Germany) · DEMRC Integrative Epidemiology UnitUniversidade de São Paulo · BRUniversity Of Bristol Dental Hospital · GB

Funding

Medical Research Council G9815508Medical Research Council MC_PC_15018Medical Research Council MC_PC_19009Medical Research Council MC_UU_00011/1Medical Research Council MC_UU_00011/5Medical Research Council MC_UU_12013/1Medical Research Council MC_UU_12013/2Medical Research Council MC_UU_12013/5Medical Research Council MC_UU_12013/8Medical Research Council MR/S003886/1Wellcome Trust
6 · The paper itself

Abstract

aimTo determine if nonsyndromic cleft lip with or without cleft palate (nsCL/P) genetic risk variants influence liability to nsCL/P through gene regulation pathways, such as those involving DNA methylation. MATERIALS &

methodsnsCL/P genetic summary data and methylation data from four studies were used in conjunction with Mendelian randomization and joint likelihood mapping to investigate potential mediation of nsCL/P genetic variants. RESULTS &

conclusionEvidence was found at VAX1 (10q25.3), LOC146880 (17q23.3) and NTN1 (17p13.1), that liability to nsCL/P and variation in DNA methylation might be driven by the same genetic variant, suggesting that genetic variation at these loci may increase liability to nsCL/P by influencing DNA methylation. Follow-up analyses using different tissues and gene expression data provided further insight into possible biological mechanisms.

Indexed as

DNA MethylationGenetic VariationChildCleft LipCleft PalateEpigenesis, GeneticFemaleHomeodomain ProteinsHumansMaleMendelian Randomization AnalysisNetrin-1Transcription FactorsHomeodomain ProteinsNetrin-1NTN1 protein, humanTranscription FactorsVAX1 protein, humanALSPACepigeneticsmendelian randomizationnsCL/P

Identifiers

PMID30638414
PMCPMC6462847
OpenAlexW2910176010

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

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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.