Evidence map›Paper›PMID 29860447›Full record

ArticleHuman molecular genetics2018

Genome-wide survey of parent-of-origin effects on DNA methylation identifies candidate imprinted loci in humans.

Gabriel Cuellar Partida, Charles Laurin, Susan M Ring, Tom R Gaunt, Allan F McRae, Peter M Visscher, Grant W Montgomery, Nicholas G Martin, Gibran Hemani, Matthew Suderman and 3 more

Abstract read
In one paragraph

Article in Human molecular genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.

0numbers the graph read from it
0cells of the map it votes in
17citing papers in PubMed
–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

17 citing papers in PubMed.

  1. Trial
  2. Review
  3. The complete genome of the KOLF2.1J reference iPSC line.bioRxiv : the preprint server for biology · 2026
    Article
  4. Article
  5. Maternal Nutrition, Toxicants, and Epigenetic Programming of Obesity Across Generations.Diabetes, metabolic syndrome and obesity : targets and therapy · 2025
    Review
  6. Review
  7. Article
  8. Article
  9. Article
  10. Article
  11. Article
  12. Article
  13. Article
  14. Article
  15. Article
  16. Article
  17. 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

13 authors.

Gabriel Cuellar PartidaUniversity of Queensland Diamantina Institute, Translational Research Institute, Brisbane, QLD, Australia.
Charles LaurinMedical Research Council (MRC) Integrative Epidemiology Unit, Population Health Sciences, Bristol Medical School, University of Bristol, Bristol, UK.
Susan M RingMedical Research Council (MRC) Integrative Epidemiology Unit, Population Health Sciences, Bristol Medical School, University of Bristol, Bristol, UK.
Tom R GauntMedical Research Council (MRC) Integrative Epidemiology Unit, Population Health Sciences, Bristol Medical School, University of Bristol, Bristol, UK.
Allan F McRaeThe Institute for Molecular Bioscience, University of Queensland, Brisbane, QLD, Australia.
Peter M VisscherThe Institute for Molecular Bioscience, University of Queensland, Brisbane, QLD, Australia.
Grant W MontgomeryThe Institute for Molecular Bioscience, University of Queensland, Brisbane, QLD, Australia.
Nicholas G MartinQIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.
Gibran HemaniMedical Research Council (MRC) Integrative Epidemiology Unit, Population Health Sciences, Bristol Medical School, University of Bristol, Bristol, UK.
Matthew SudermanMedical Research Council (MRC) Integrative Epidemiology Unit, Population Health Sciences, Bristol Medical School, University of Bristol, Bristol, UK.
Caroline L ReltonMedical Research Council (MRC) Integrative Epidemiology Unit, Population Health Sciences, Bristol Medical School, University of Bristol, Bristol, UK.
George Davey SmithMedical Research Council (MRC) Integrative Epidemiology Unit, Population Health Sciences, Bristol Medical School, University of Bristol, Bristol, UK.
David M EvansUniversity of Queensland Diamantina Institute, Translational Research Institute, Brisbane, QLD, Australia.

Funding

Biotechnology and Biological Sciences Research Council BB/I025263/1Biotechnology and Biological Sciences Research Council BB/I025751/1Medical Research Council G9815508Medical Research Council MC_UU_00011/4Medical Research Council MC_UU_12013/1Medical Research Council MC_UU_12013/2Medical Research Council MC_UU_12013/4Medical Research Council MC_UU_12013/8Wellcome Trust 102215/2/13/2Wellcome Trust 208806/Z/17/Z
6 · The paper itself

Abstract

Genomic imprinting is an epigenetic mechanism leading to parent-of-origin silencing of alleles. So far, the precise number of imprinted regions in humans is uncertain. In this study, we leveraged genome-wide DNA methylation in whole blood measured longitudinally at three time points (birth, childhood and adolescence) and genome-wide association studies (GWAS) data in 740 mother-child duos from the Avon Longitudinal Study of parents and children to identify candidate imprinted loci. We reasoned that cis-meQTLs at genomic regions that were imprinted would show strong evidence of parent-of-origin associations with DNA methylation, enabling the detection of imprinted regions. Using this approach, we identified genome-wide significant cis-meQTLs that exhibited parent-of-origin effects (POEs) at 82 loci, 34 novel and 48 regions previously implicated in imprinting (3.7-10<P < 10-300). Using an independent dataset from the Brisbane Systems Genetic Study, we replicated 76 out of the 82 identified loci. POEs were remarkably consistent across time points and were so strong at some loci that methylation levels enabled good discrimination of parental transmissions at these and surrounding genomic regions. The implication is that parental allelic transmissions could be modelled at many imprinted (and linked) loci in GWAS of unrelated individuals given a combination of genetic and methylation data. Novel regions showing parent of origin effects on methylation will require replication using a different technology and further functional experiments to confirm that such effects arise through a genomic imprinting mechanism.

Indexed as

AdolescentAllelesChildCpG IslandsDNA MethylationEpigenesis, GeneticFemaleGenome, HumanGenome-Wide Association StudyGenomic ImprintingHumansInfant, NewbornLongitudinal StudiesMaleQuantitative Trait LociSurveys and Questionnaires

Identifiers

PMID29860447
PMCPMC6077796

What OpenQuestion holds

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LicenceCC BY
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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.