Investigation of previously implicated genetic variants in chronic tic disorders: a transmission disequilibrium test approach.

Détails

ID Serval
serval:BIB_B13AC350DE85
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Titre
Investigation of previously implicated genetic variants in chronic tic disorders: a transmission disequilibrium test approach.
Périodique
European archives of psychiatry and clinical neuroscience
Auteur⸱e⸱s
Abdulkadir M., Londono D., Gordon D., Fernandez T.V., Brown L.W., Cheon K.A., Coffey B.J., Elzerman L., Fremer C., Fründt O., Garcia-Delgar B., Gilbert D.L., Grice D.E., Hedderly T., Heyman I., Hong H.J., Huyser C., Ibanez-Gomez L., Jakubovski E., Kim Y.K., Kim Y.S., Koh Y.J., Kook S., Kuperman S., Leventhal B., Ludolph A.G., Madruga-Garrido M., Maras A., Mir P., Morer A., Müller-Vahl K., Münchau A., Murphy T.L., Plessen K.J., Roessner V., Shin E.Y., Song D.H., Song J., Tübing J., van den Ban E., Visscher F., Wanderer S., Woods M., Zinner S.H., King R.A., Tischfield J.A., Heiman G.A., Hoekstra P.J., Dietrich A.
ISSN
1433-8491 (Electronic)
ISSN-L
0940-1334
Statut éditorial
Publié
Date de publication
04/2018
Peer-reviewed
Oui
Volume
268
Numéro
3
Pages
301-316
Langue
anglais
Notes
Publication types: Journal Article
Publication Status: ppublish
Résumé
Genetic studies in Tourette syndrome (TS) are characterized by scattered and poorly replicated findings. We aimed to replicate findings from candidate gene and genome-wide association studies (GWAS). Our cohort included 465 probands with chronic tic disorder (93% TS) and both parents from 412 families (some probands were siblings). We assessed 75 single nucleotide polymorphisms (SNPs) in 465 parent-child trios; 117 additional SNPs in 211 trios; and 4 additional SNPs in 254 trios. We performed SNP and gene-based transmission disequilibrium tests and compared nominally significant SNP results with those from a large independent case-control cohort. After quality control 71 SNPs were available in 371 trios; 112 SNPs in 179 trios; and 3 SNPs in 192 trios. 17 were candidate SNPs implicated in TS and 2 were implicated in obsessive-compulsive disorder (OCD) or autism spectrum disorder (ASD); 142 were tagging SNPs from eight monoamine neurotransmitter-related genes (including dopamine and serotonin); 10 were top SNPs from TS GWAS; and 13 top SNPs from attention-deficit/hyperactivity disorder, OCD, or ASD GWAS. None of the SNPs or genes reached significance after adjustment for multiple testing. We observed nominal significance for the candidate SNPs rs3744161 (TBCD) and rs4565946 (TPH2) and for five tagging SNPs; none of these showed significance in the independent cohort. Also, SLC1A1 in our gene-based analysis and two TS GWAS SNPs showed nominal significance, rs11603305 (intergenic) and rs621942 (PICALM). We found no convincing support for previously implicated genetic polymorphisms. Targeted re-sequencing should fully appreciate the relevance of candidate genes.
Mots-clé
Adolescent, Adult, Child, Child, Preschool, Family Health, Female, Genome-Wide Association Study, Genotype, Humans, Linkage Disequilibrium, Male, Microtubule-Associated Proteins/genetics, Middle Aged, Polymorphism, Single Nucleotide/genetics, Severity of Illness Index, Tic Disorders/genetics, Tryptophan Hydroxylase/genetics, Young Adult, Attention-deficit/hyperactivity disorder, Candidate gene study, Obsessive–compulsive disorder, Tourette syndrome, Transmission Disequilibrium Test
Pubmed
Web of science
Open Access
Oui
Création de la notice
12/02/2019 10:42
Dernière modification de la notice
20/08/2019 16:20
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