Evidence map›Paper›PMID 28629478›Full record

ReviewGenome biology2017

Genetic-epigenetic interactions in cis: a major focus in the post-GWAS era.

Catherine Do, Alyssa Shearer, Masako Suzuki, Mary Beth Terry, Joel Gelernter, John M Greally, Benjamin Tycko

Open access · goldAbstract readReview
In one paragraph

Review in Genome biology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 82 papers, 4 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
82citing papers in PubMed, 4 pooled it
8.2field-weighted citation impact, top 2% 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

82 citing papers in PubMed, 4 syntheses or guidelines pooled it, 163 citations in OpenAlex.

  1. Pooled it
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  17. Hub Genes PRPF19 and PPIB: Molecular Pathways and Potential Biomarkers in COPD.International journal of chronic obstructive pulmonary disease · 2025
    Article
  18. Review
  19. Association ofMolecular genetics and metabolism reports · 2024
    Article
  20. Article

22 more citing papers are in PubMed but not listed here.

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

7 authors at 5 institutions in 1 country.

Catherine DoInstitute for Cancer Genetics and Herbert Irving Comprehensive Cancer Center, Columbia University, New York, NY, 10032, USA.
Alyssa ShearerInstitute for Cancer Genetics and Herbert Irving Comprehensive Cancer Center, Columbia University, New York, NY, 10032, USA.
Masako SuzukiCenter for Epigenomics, Department of Genetics, Albert Einstein College of Medicine, Bronx, NY, 10461, USA.
Mary Beth TerryDepartment of Epidemiology, Columbia University Mailman School of Public Health, and Herbert Irving Comprehensive Cancer Center, Columbia University, New York, NY, 10032, USA.
Joel GelernterDepartments of Psychiatry, Genetics, and Neurobiology, Yale University School of Medicine, New Haven, CT, 06520, USA.
John M GreallyCenter for Epigenomics, Department of Genetics, Albert Einstein College of Medicine, Bronx, NY, 10461, USA.
Benjamin TyckoInstitute for Cancer Genetics, Herbert Irving Comprehensive Cancer Center, Taub Institute for Research on Alzheimer's disease and the Aging Brain, New York, NY, 10032, USA. bt12@cumc.columbia.edu.ORCID 0000-0001-7811-5164
Albert Einstein College of Medicine · USCancer Genetics (United States) · USColumbia University Irving Medical Center · USHerbert Irving Comprehensive Cancer CenterYale University · US

Funding

Translational Research CoreP30DK020541 · NIDDK · ALBERT EINSTEIN COLLEGE OF MEDICINE, INC · PI STREAMSON C CHUA · 2015 to 2026
$27.7M
NUTRITIONT32DK007647 · NIDDK · COLUMBIA UNIV NEW YORK MORNINGSIDE · PI Anthony W Ferrante, Lori M Zeltser · 1990 to 2026
$7.4M
Epigenetic events underlying Type I diabetesDP3DK094400 · NIDDK · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI CHRISTIANO, ANGELA M, CLYNES, RAPHAEL A. · 2011 to 2011
$6.6M
Prenatal stress: the epigenetic basis of maternal and perinatal effectsR01MH092580 · NIMH · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI CHAMPAGNE, FRANCES A., MONK, CATHERINE E · 2011 to 2015
$3.4M
Epigenomics of Alzheimer's DiseaseR01AG036040 · NIA · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI MAYEUX, RICHARD P, TYCKO, BENJAMIN · 2009 to 2013
$3.3M
Allele-specific Mapping in Alzheimer's DiseaseR01AG035020 · NIA · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI MAYEUX, RICHARD P, TYCKO, BENJAMIN · 2010 to 2014
$592k
DNA Elements Underlying Celiac and Crohn's SusceptibilityR21AI133140 · NIAID · HACKENSACK UNIVERSITY MEDICAL CENTER · PI TYCKO, BENJAMIN · 2017 to 2018
$489k
NIAID NIH HHS R21 AI133140NIA NIH HHS R01 AG035020NIA NIH HHS R01 AG036040NIDDK NIH HHS DP3 DK094400NIDDK NIH HHS P30 DK020541NIDDK NIH HHS T32 DK007647NIMH NIH HHS R01 MH092580
6 · The paper itself

Abstract

Studies on genetic-epigenetic interactions, including the mapping of methylation quantitative trait loci (mQTLs) and haplotype-dependent allele-specific DNA methylation (hap-ASM), have become a major focus in the post-genome-wide-association-study (GWAS) era. Such maps can nominate regulatory sequence variants that underlie GWAS signals for common diseases, ranging from neuropsychiatric disorders to cancers. Conversely, mQTLs need to be filtered out when searching for non-genetic effects in epigenome-wide association studies (EWAS). Sequence variants in CCCTC-binding factor (CTCF) and transcription factor binding sites have been mechanistically linked to mQTLs and hap-ASM. Identifying these sites can point to disease-associated transcriptional pathways, with implications for targeted treatment and prevention.

Indexed as

Epigenesis, GeneticGenome-Wide Association StudyAllelesCpG IslandsDNA MethylationHaplotypesHumansPolymorphism, Single NucleotideQuantitative Trait Loci

Identifiers

PMID28629478
PMCPMC5477265
OpenAlexW2626966859

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.