Evidence map›Paper›PMID 23908385›Full record

ArticleGenome research2013

DNA methylation contributes to natural human variation.

Holger Heyn, Sebastian Moran, Irene Hernando-Herraez, Sergi Sayols, Antonio Gomez, Juan Sandoval, Dave Monk, Kenichiro Hata, Tomas Marques-Bonet, Liewei Wang and 1 more

Open access · hybridAbstract read
In one paragraph

Article in Genome research, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 215 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
215citing papers in PubMed, 1 pooled it
–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

215 citing papers in PubMed, 1 synthesis or guideline pooled it, 438 citations in OpenAlex.

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  20. Non-coding 886 (Epigenetics · 2024
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155 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

11 authors at 5 institutions in 3 countries.

Holger HeynCancer Epigenetics and Biology Program (PEBC), Bellvitge Biomedical Research Institute (IDIBELL), 08908 L'Hospitalet de Llobregat, Barcelona, Catalonia, Spain.
Sebastian Moran
Irene Hernando-Herraez
Sergi Sayols
Antonio Gomez
Juan Sandoval
Dave Monk
Kenichiro Hata
Tomas Marques-Bonet
Liewei Wang
Manel Esteller
Institut d'Investigació Biomédica de Bellvitge · ESInstitució Catalana de Recerca i Estudis Avançats · ESConsejo Superior de Investigaciones Científicas · ESMayo Clinic · USNational Center For Child Health and Development · JP

Funding

Pharmacogenetics of Phase II Drug Metabolizing EnzymesU19GM061388 · NIGMS · MAYO CLINIC ROCHESTER · PI WEINSHILBOUM, RICHARD M. · 2010 to 2014
$15.8M
PHARMACOGENETICS OF PHASE II DRUG METABOLIZING ENZYMESU01GM061388 · NIGMS · MAYO CLINIC ROCHESTER · PI WEINSHILBOUM, RICHARD M. · 2000 to 2009
$15.7M
Pharmacogenomics and Mechanisms of Cytidine AnaloguesR01CA138461 · NCI · MAYO CLINIC ROCHESTER · PI WANG, LIEWEI · 2009 to 2013
$1.5M
NCI NIH HHS CA138461NCI NIH HHS R01 CA138461NIGMS NIH HHS GM61388NIGMS NIH HHS U01 GM061388NIGMS NIH HHS U19 GM061388
6 · The paper itself

Abstract

DNA methylation patterns are important for establishing cell, tissue, and organism phenotypes, but little is known about their contribution to natural human variation. To determine their contribution to variability, we have generated genome-scale DNA methylation profiles of three human populations (Caucasian-American, African-American, and Han Chinese-American) and examined the differentially methylated CpG sites. The distinctly methylated genes identified suggest an influence of DNA methylation on phenotype differences, such as susceptibility to certain diseases and pathogens, and response to drugs and environmental agents. DNA methylation differences can be partially traced back to genetic variation, suggesting that differentially methylated CpG sites serve as evolutionarily established mediators between the genetic code and phenotypic variability. Notably, one-third of the DNA methylation differences were not associated with any genetic variation, suggesting that variation in population-specific sites takes place at the genetic and epigenetic levels, highlighting the contribution of epigenetic modification to natural human variation.

Indexed as

DNA MethylationGenetic VariationAdultAsianBlack or African AmericanEpigenesis, GeneticFemaleGenome, HumanGenome-Wide Association StudyHumansMalePopulationQuantitative Trait LociWhite People

Identifiers

PMID23908385
PMCPMC3759714
OpenAlexW2095727856

What OpenQuestion holds

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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.