Evidence map›Paper›PMID 24555763›Full record

ArticleBMC genomics2014

Methylation quantitative trait loci (meQTLs) are consistently detected across ancestry, developmental stage, and tissue type.

Alicia K Smith, Varun Kilaru, Mehmet Kocak, Lynn M Almli, Kristina B Mercer, Kerry J Ressler, Frances A Tylavsky, Karen N Conneely

Abstract read
In one paragraph

Article in BMC genomics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 154 papers, 5 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
154citing papers in PubMed, 5 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

154 citing papers in PubMed, 5 syntheses or guidelines pooled it.

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  6. Article
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  10. Multi-omics Data Integration.Advances in experimental medicine and biology · 2026
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  19. Genetic effects on the skin methylome in healthy older twins.American journal of human genetics · 2024
    Article
  20. Article

94 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

8 authors.

Alicia K SmithDepartment of Psychiatry and Behavioral Science, Emory University, 101 Woodruff Circle NE; Ste 4000, Atlanta, GA 30322, USA. alicia.smith@emory.edu.
Varun Kilaru
Mehmet Kocak
Lynn M Almli
Kristina B Mercer
Kerry J Ressler
Frances A Tylavsky
Karen N Conneely

Funding

Genetic and Trauma-Related Risk Factors for PTSDR01MH071537 · NIMH · EMORY UNIVERSITY · PI RESSLER, KERRY J. · 2005 to 2014
$8.5M
Genetic and estrogen-dependent regulation of the human PAC1R receptor and PTSDR01MH096764 · NIMH · MCLEAN HOSPITAL · PI RESSLER, KERRY J. · 2012 to 2016
$2.1M
Genomics and Epigenomics of Fetal Growth RegulationR01HD060713 · NICHD · UNIVERSITY OF TENNESSEE HEALTH SCI CTR · PI TYLAVSKY, FRANCES A · 2009 to 2010
$1.3M
Maternal-Fetal Conflict: The Effect of Imprinted Genes on Fetal GrowthR01HD055462 · NICHD · UNIVERSITY OF TENNESSEE HEALTH SCI CTR · PI TYLAVSKY, FRANCES A · 2007 to 2010
$1.1M
Genetic & Environmental Risk Factors that Contribute to Childhood PsychopathologyK01MH085806 · NIMH · EMORY UNIVERSITY · PI SMITH, ALICIA K · 2010 to 2013
$522k
Genetic and Trauma-Related Risk Factors for PTSD: From GWAS to FunctionR56MH071537 · NIMH · EMORY UNIVERSITY · PI RESSLER, KERRY J. · 2015 to 2015
$148k
Howard Hughes Medical InstituteNICHD NIH HHS HD055462NICHD NIH HHS HD060713NIMH NIH HHS MH071537NIMH NIH HHS MH085806NIMH NIH HHS MH096764
6 · The paper itself

Abstract

backgroundIndividual genotypes at specific loci can result in different patterns of DNA methylation. These methylation quantitative trait loci (meQTLs) influence methylation across extended genomic regions and may underlie direct SNP associations or gene-environment interactions. We hypothesized that the detection of meQTLs varies with ancestral population, developmental stage, and tissue type. We explored this by analyzing seven datasets that varied by ancestry (African American vs. Caucasian), developmental stage (neonate vs. adult), and tissue type (blood vs. four regions of postmortem brain) with genome-wide DNA methylation and SNP data. We tested for meQTLs by constructing linear regression models of methylation levels at each CpG site on SNP genotypes within 50 kb under an additive model controlling for multiple tests.

resultsMost meQTLs mapped to intronic regions, although a limited number appeared to occur in synonymous or nonsynonymous coding SNPs. We saw significant overlap of meQTLs between ancestral groups, developmental stages, and tissue types, with the highest rates of overlap within the four brain regions. Compared with a random group of SNPs with comparable frequencies, meQTLs were more likely to be 1) represented among the most associated SNPs in the WTCCC bipolar disorder results and 2) located in microRNA binding sites.

conclusionsThese data give us insight into how SNPs impact gene regulation and support the notion that peripheral blood may be a reliable correlate of physiological processes in other tissues.

Indexed as

DNA MethylationEvolution, MolecularQuantitative Trait LociAdultCluster AnalysisCpG IslandsEpigenesis, GeneticFemaleGene-Environment InteractionGene Expression RegulationGenome-Wide Association StudyHumansMaleMiddle AgedOrgan SpecificityPolymorphism, Single Nucleotide

Identifiers

PMID24555763
PMCPMC4028873

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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.