Association of Rare Genetic Variants in Opioid Receptors with Tourette Syndrome.
OPRK1
Tourette syndrome
gene
opioid receptor
susceptibility factor
variant
zebrafish
Journal
Tremor and other hyperkinetic movements (New York, N.Y.)
ISSN: 2160-8288
Titre abrégé: Tremor Other Hyperkinet Mov (N Y)
Pays: England
ID NLM: 101569493
Informations de publication
Date de publication:
2019
2019
Historique:
received:
25
06
2019
accepted:
15
10
2019
entrez:
12
12
2019
pubmed:
12
12
2019
medline:
20
9
2020
Statut:
epublish
Résumé
Genes involved in Tourette syndrome (TS) remain largely unknown. We aimed to identify genetic factors contributing to TS in a French cohort of 120 individuals using a combination of hypothesis-driven and exome-sequencing approaches. We first sequenced exons of Thirteen ultrarare missense variants of These results support a heterogeneous and complex genetic etiology of TS, possibly involving rare variants altering the opioid pathway in some individuals, which could represent a novel therapeutic target in this disorder.
Sections du résumé
Background
Genes involved in Tourette syndrome (TS) remain largely unknown. We aimed to identify genetic factors contributing to TS in a French cohort of 120 individuals using a combination of hypothesis-driven and exome-sequencing approaches.
Methods
We first sequenced exons of
Results
Thirteen ultrarare missense variants of
Discussion
These results support a heterogeneous and complex genetic etiology of TS, possibly involving rare variants altering the opioid pathway in some individuals, which could represent a novel therapeutic target in this disorder.
Identifiants
pubmed: 31824749
doi: 10.7916/tohm.v0.693
pii: tre-09-693
pmc: PMC6878848
doi:
Substances chimiques
Receptors, Opioid
0
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Informations de copyright
© 2019 Depienne et al.
Déclaration de conflit d'intérêts
Funding: This study was financially supported by the Association Française du Syndrome Gilles de la Tourette (AFSGT), Merz-Pharma, ICM, and INSERM. The Genotype-Tissue Expression (GTEx) Project was supported by the Common Fund of the Office of the Director of the National Institutes of Health, and by NCI, NHGRI, NHLBI, NIDA, NIMH, and NINDS. The data used for the analyses described in this article were obtained from the GTEx Portal on 09/13/2017. Conflicts of Interest: The authors report no conflict of interest. Ethics Statement: This study was performed in accordance with the ethical standards detailed in the Declaration of Helsinki. The authors' institutional ethics committee has approved this study and all patients have provided written informed consent. Data Availability: Individuals included in this study have not consented to have their exome data released. The raw data that support the findings of this study, with the exception of individual exome data, are available from the corresponding authors, upon request.
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