Evidence map›Paper›PMID 32616021›Full record

ArticleClinical epigenetics2020

meQTL and ncRNA functional analyses of 102 GWAS-SNPs associated with depression implicate HACE1 and SHANK2 genes.

Diana M Ciuculete, Sarah Voisin, Lara Kular, Jörgen Jonsson, Mathias Rask-Andersen, Jessica Mwinyi, Helgi B Schiöth

Open access · goldAbstract read
In one paragraph

Article in Clinical epigenetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
22citing papers in PubMed, 2 pooled it
4.1field-weighted citation impact, top 6% 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

22 citing papers in PubMed, 2 syntheses or guidelines pooled it, 35 citations in OpenAlex.

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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

7 authors at 3 institutions in 3 countries.

Diana M CiuculeteDepartment of Neuroscience, Functional Pharmacology, Uppsala University, BMC, Box 593, Husargatan 3, 753124, Uppsala, Sweden. diana-maria.ciuculete@neuro.uu.se.ORCID 0000-0001-6377-0270
Sarah VoisinInstitute for Health and Sport (iHeS), Victoria University, Footscray, VIC, 3011, Australia.
Lara KularDepartment of Clinical Neuroscience, Center for Molecular Medicine, Karolinska Institutet, 171 76, Stockholm, Sweden.
Jörgen JonssonDepartment of Neuroscience, Functional Pharmacology, Uppsala University, BMC, Box 593, Husargatan 3, 753124, Uppsala, Sweden.
Mathias Rask-AndersenDepartment of Immunology, Genetic and Pathology, Uppsala University, Uppsala, Sweden.
Jessica MwinyiDepartment of Neuroscience, Functional Pharmacology, Uppsala University, BMC, Box 593, Husargatan 3, 753124, Uppsala, Sweden.
Helgi B SchiöthDepartment of Neuroscience, Functional Pharmacology, Uppsala University, BMC, Box 593, Husargatan 3, 753124, Uppsala, Sweden.
Uppsala University · SEKarolinska Institutet · SEVictoria University · AU

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundLittle is known about how genetics and epigenetics interplay in depression. Evidence suggests that genetic variants may change vulnerability to depression by modulating DNA methylation (DNAm) and non-coding RNA (ncRNA) levels. Therefore, the aim of the study was to investigate the effect of the genetic variation, previously identified in the largest genome-wide association study for depression, on proximal DNAm and ncRNA levels.

resultsWe performed DNAm quantitative trait locus (meQTL) analysis in two independent cohorts (total n = 435 healthy individuals), testing associations between 102 single-nucleotide polymorphisms (SNPs) and DNAm levels in whole blood. We identified and replicated 64 SNP-CpG pairs (p

conclusionsCollectively, our findings from a multi-tissue (blood and brain) and multi-layered (genetic, epigenetic, transcriptomic) approach suggest that genetic factors may influence depression by modulating DNAm and miRNA levels. Alterations at HACE1 and SHANK2 loci imply potential mechanisms, such as oxidative stress in the brain, underlying depression. Our results deepened the knowledge of molecular mechanisms in depression and suggest new epigenetic targets that should be further evaluated.

Indexed as

AdolescentAdultAllelesAutopsyBrainCase-Control StudiesDepressionDNA MethylationEpigenomicsFemaleGenome-Wide Association StudyHumansMajor Depressive DisorderMaleMicroRNAsNerve Tissue ProteinsHACE1 protein, humanMicroRNAsNerve Tissue ProteinsRNA, UntranslatedSHANK2 protein, humanUbiquitin-Protein LigasesDepressionDNA methylationGeneticsmeQTLMicroRNA

Identifiers

PMID32616021
PMCPMC7333393
OpenAlexW3040232429

What OpenQuestion holds

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LicenceCC BY
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Registered trials

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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.