Evidence map›Paper›PMID 28603561›Full record

ArticleClinical epigenetics2017

Distinct DNA methylation profiles in subtypes of orofacial cleft.

Gemma C Sharp, Karen Ho, Amy Davies, Evie Stergiakouli, Kerry Humphries, Wendy McArdle, Jonathan Sandy, George Davey Smith, Sarah J Lewis, Caroline L Relton

Open access · goldAbstract read
In one paragraph

Article in Clinical epigenetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 57 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
57citing papers in PubMed, 2 pooled it
10.6field-weighted citation impact, top 1% 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

57 citing papers in PubMed, 2 syntheses or guidelines pooled it, 105 citations in OpenAlex.

  1. A Review and Meta-Analysis on Altered Brain Structure in Patients Born with Non-Syndromic Cleft Lip and/or Palate.The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association · 2026
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  12. Genetic-epigenetic interactions (meQTLs) in orofacial clefts etiology.medRxiv : the preprint server for health sciences · 2025
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  14. Cleft lip Sidedness and the Association with Additional Congenital Malformations.The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association · 2025
    Article
  15. Sidedness in Unilateral Orofacial Clefts: A Systematic Scoping Review.The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association · 2025
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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

10 authors at 2 institutions in 1 country.

Gemma C SharpMRC Integrative Epidemiology Unit, School of Oral and Dental Sciences, University of Bristol, Bristol, England.
Karen HoMRC Integrative Epidemiology Unit, School of Social and Community Medicine, University of Bristol, Bristol, England.
Amy DaviesSchool of Oral and Dental Sciences, University of Bristol, Bristol, England.
Evie StergiakouliMRC Integrative Epidemiology Unit, School of Oral and Dental Sciences, University of Bristol, Bristol, England.
Kerry HumphriesSchool of Oral and Dental Sciences, University of Bristol, Bristol, England.
Wendy McArdleSchool of Social and Community Medicine, University of Bristol, Bristol, England.
Jonathan SandySchool of Oral and Dental Sciences, University of Bristol, Bristol, England.
George Davey SmithMRC Integrative Epidemiology Unit, School of Social and Community Medicine, University of Bristol, Bristol, England.
Sarah J LewisMRC Integrative Epidemiology Unit, School of Social and Community Medicine, University of Bristol, Bristol, England.
Caroline L ReltonMRC Integrative Epidemiology Unit, School of Social and Community Medicine, University of Bristol, Bristol, England.
University of Bristol · GBUniversity Of Bristol Dental Hospital · GB

Funding

Medical Research Council MC_UU_12013/1Medical Research Council MC_UU_12013/2
6 · The paper itself

Abstract

backgroundEpigenetic data could help identify risk factors for orofacial clefts, either by revealing a causal role for epigenetic mechanisms in causing clefts or by capturing information about causal genetic or environmental factors. Given the evidence that different subtypes of orofacial cleft have distinct aetiologies, we explored whether children with different cleft subtypes showed distinct epigenetic profiles.

methodsIn whole-blood samples from 150 children from the Cleft Collective cohort study, we measured DNA methylation at over 450,000 sites on the genome. We then carried out epigenome-wide association studies (EWAS) to test the association between methylation at each site and cleft subtype (cleft lip only (CLO)

resultsWe found four genomic regions in blood differentially methylated in CLO compared to CLP, 17 in CPO compared to CLP and 294 in CPO compared to CLO. Several regions mapped to genes that have previously been implicated in the development of orofacial clefts (for example,

conclusionsOur finding of distinct methylation profiles in different orofacial cleft (OFC) subtypes represents a promising first step in exploring the potential role of epigenetic modifications in the aetiology of OFCs and/or as clinically useful biomarkers of OFC subtypes.

Indexed as

DNA MethylationCleft LipCleft PalateCohort StudiesEpigenomicsFemaleGene Regulatory NetworksGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansInfantMaleCleft CollectiveCleft lipCleft palateDNA methylationEpigenome-wide association studyEWASOrofacial clefts

Identifiers

PMID28603561
PMCPMC5465456
OpenAlexW2951131440

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.