Evidence map›Paper›PMID 34680906›Full record

ArticleGenes2021

EWAS of Monozygotic Twins Implicate a Role of mTOR Pathway in Pathogenesis of Tic Spectrum Disorder.

Mathis Hildonen, Amanda M Levy, Christine Søholm Hansen, Jonas Bybjerg-Grauholm, Axel Skytthe, Nanette M Debes, Qihua Tan, Zeynep Tümer

Open access · goldAbstract readTwin Study
In one paragraph

Article in Genes, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed
1.3field-weighted citation impact, top 18% 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

8 citing papers in PubMed, 11 citations in OpenAlex.

  1. Article
  2. Article
  3. Review
  4. Article
  5. Epigenome-wide Association Study for Tic Disorders in Children: A Preliminary Study in Korean Population.Clinical psychopharmacology and neuroscience : the official scientific journal of the Korean College of Neuropsychopharmacology · 2024
    Article
  6. Molecular Landscape of Tourette's Disorder.International journal of molecular sciences · 2023
    Article
  7. Muscle hemihypertrophy syndrome withJAAD case reports · 2022
    Article
  8. Review
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 at 4 institutions in 1 country.

Mathis HildonenKennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, 2600 Glostrup, Denmark.ORCID 0000-0002-2016-3670
Amanda M LevyKennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, 2600 Glostrup, Denmark.ORCID 0000-0001-7863-4300
Christine Søholm HansenDepartment for Congenital Disorders, Statens Serum Institut, 2300 Copenhagen, Denmark.
Jonas Bybjerg-GrauholmDepartment for Congenital Disorders, Statens Serum Institut, 2300 Copenhagen, Denmark.
Axel SkyttheEpidemiology and Biostatistics, Department of Public Health, University of Southern Denmark, 5000 Odense, Denmark.
Nanette M DebesTourette Clinics, Department of Paediatrics, Copenhagen University Hospital, 2730 Herlev, Denmark.ORCID 0000-0003-0279-1865
Qihua TanEpidemiology and Biostatistics, Department of Public Health, University of Southern Denmark, 5000 Odense, Denmark.
Zeynep TümerKennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, 2600 Glostrup, Denmark.ORCID 0000-0002-4777-5802
Copenhagen University Hospital · DKStatens Serum Institut · DKUniversity of Southern Denmark · DKUniversity of Copenhagen · DK

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Tic spectrum disorder (TSD) is an umbrella term which includes Gilles de la Tourette syndrome (GTS) and chronic tic disorder (CTD). They are considered highly heritable, yet the genetic components remain largely unknown. In this study we aimed to investigate disease-associated DNA methylation differences to identify genes and pathways which may be implicated in TSD aetiology. For this purpose, we performed an exploratory analysis of the genome-wide DNA methylation patterns in whole blood samples of 16 monozygotic twin pairs, of which eight were discordant and six concordant for TSD, while two pairs were asymptomatic. Although no sites reached genome-wide significance, we identified several sites and regions with a suggestive significance, which were located within or in the vicinity of genes with biological functions associated with neuropsychiatric disorders. The two top genes identified (

Indexed as

DNA MethylationEpigenesis, GeneticFemaleHumansMalePhosphatidylinositol 3-KinasesProto-Oncogene Proteins c-aktPTEN PhosphohydrolaseSignal TransductionTOR Serine-Threonine KinasesTourette SyndromeTuberous Sclerosis Complex 1 ProteinTwins, MonozygoticPhosphatidylinositol 3-KinasesProto-Oncogene Proteins c-aktPTEN PhosphohydrolasePTEN protein, humanTOR Serine-Threonine KinasesTSC1 protein, humanTuberous Sclerosis Complex 1 Proteinchronic tic disorderepigeneticsGilles de la Tourette syndromeGTSmethylationmonozygotic twinsmTORticstic spectrum disorderTSC1

Identifiers

PMID34680906
PMCPMC8535383
OpenAlexW3204774141

What Socratic 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 Socratic graph.