EWAS of Monozygotic Twins Implicate a Role of mTOR Pathway in Pathogenesis of Tic Spectrum Disorder.
DNA Methylation
Epigenesis, Genetic
Female
Humans
Male
PTEN Phosphohydrolase
/ metabolism
Phosphatidylinositol 3-Kinases
/ metabolism
Proto-Oncogene Proteins c-akt
/ metabolism
Signal Transduction
TOR Serine-Threonine Kinases
/ genetics
Tourette Syndrome
/ genetics
Tuberous Sclerosis Complex 1 Protein
/ genetics
Twins, Monozygotic
/ genetics
GTS
Gilles de la Tourette syndrome
TSC1
chronic tic disorder
epigenetics
mTOR
methylation
monozygotic twins
tic spectrum disorder
tics
Journal
Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097
Informations de publication
Date de publication:
26 09 2021
26 09 2021
Historique:
received:
15
07
2021
revised:
21
09
2021
accepted:
23
09
2021
entrez:
23
10
2021
pubmed:
24
10
2021
medline:
8
2
2022
Statut:
epublish
Résumé
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 (
Identifiants
pubmed: 34680906
pii: genes12101510
doi: 10.3390/genes12101510
pmc: PMC8535383
pii:
doi:
Substances chimiques
TSC1 protein, human
0
Tuberous Sclerosis Complex 1 Protein
0
Proto-Oncogene Proteins c-akt
EC 2.7.11.1
TOR Serine-Threonine Kinases
EC 2.7.11.1
PTEN Phosphohydrolase
EC 3.1.3.67
PTEN protein, human
EC 3.1.3.67
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Twin Study
Langues
eng
Sous-ensembles de citation
IM
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