Abstract:Gilles de la Tourette syndrome (GTS) is a neuropsychiatric disorder characterized by multiple motor and vocal tics. GTS is a complex disorder, with environmental factors and several genes involved. Although variations within a few genes such as AADAC, NRXN1, SLITRK1, HDC, and IMMP2L have been tentatively associated with GTS (in a small number of patients), the causative genes underlying GTS pathophysiology remain unknown. In a previous genome-wide association study (GWAS) a single nucleotide polymorphism (SNP,… Show more
“…However, some studies on these genes included patients with both TS and OCD. 155,156 Likewise, we did not find any studies on links between TS candidate genes not mentioned above 153,154,157,158 and TTM. Among these studies, some included patients with both TS and OCD.…”
Section: Candidate Gene Studiescontrasting
confidence: 57%
“…SLITRK1 variants are associated with OCD, 150,151 but also with TTM and TS. 90,[151][152][153][154] This gene seems involved in vulnerability for all three of these disorders.…”
Objective: Trichotillomania (TTM) is characterized by the pulling out of one's hair. TTM was classified as an impulse control disorder in DSM-IV, but is now classified in the obsessive-compulsive related disorders section of DSM-5. Classification for TTM remains an open question, especially considering its impact on treatment of the disorder. In this review, we questioned the relation of TTM to tic disorder and obsessive-compulsive disorder (OCD). Method: We reviewed relevant MEDLINE-indexed articles on clinical, neuropsychological, neurobiological, and therapeutic aspects of trichotillomania, OCD, and tic disorders. Results: Our review found a closer relationship between TTM and tic disorder from neurobiological (especially imaging) and therapeutic standpoints. Conclusion: We sought to challenge the DSM-5 classification of TTM and to compare TTM with both OCD and tic disorder. Some discrepancies between TTM and tic disorders notwithstanding, several arguments are in favor of a closer relationship between these two disorders than between TTM and OCD, especially when considering implications for therapy. This consideration is essential for patients.
“…However, some studies on these genes included patients with both TS and OCD. 155,156 Likewise, we did not find any studies on links between TS candidate genes not mentioned above 153,154,157,158 and TTM. Among these studies, some included patients with both TS and OCD.…”
Section: Candidate Gene Studiescontrasting
confidence: 57%
“…SLITRK1 variants are associated with OCD, 150,151 but also with TTM and TS. 90,[151][152][153][154] This gene seems involved in vulnerability for all three of these disorders.…”
Objective: Trichotillomania (TTM) is characterized by the pulling out of one's hair. TTM was classified as an impulse control disorder in DSM-IV, but is now classified in the obsessive-compulsive related disorders section of DSM-5. Classification for TTM remains an open question, especially considering its impact on treatment of the disorder. In this review, we questioned the relation of TTM to tic disorder and obsessive-compulsive disorder (OCD). Method: We reviewed relevant MEDLINE-indexed articles on clinical, neuropsychological, neurobiological, and therapeutic aspects of trichotillomania, OCD, and tic disorders. Results: Our review found a closer relationship between TTM and tic disorder from neurobiological (especially imaging) and therapeutic standpoints. Conclusion: We sought to challenge the DSM-5 classification of TTM and to compare TTM with both OCD and tic disorder. Some discrepancies between TTM and tic disorders notwithstanding, several arguments are in favor of a closer relationship between these two disorders than between TTM and OCD, especially when considering implications for therapy. This consideration is essential for patients.
“…A follow-up study [212] that included 42 of the top candidates from the initial GWAS found a significant association at rs2060546, near the gene that encodes the axon guidance protein netrin 4 (NTN4), which shows strong expression in the striatum. A recent attempt at replicating this association failed [213]; however, a meta-analysis of 3 cohorts showed significance and consistent direction of effect.…”
Human genetic studies have been the driving force in bringing to light the underlying biology of psychiatric conditions. As these studies fill in the gaps in our knowledge of the mechanisms at play, we will be better equipped to design therapies in rational and targeted ways, or repurpose existing therapies in previously unanticipated ways. This review is intended for those unfamiliar with psychiatric genetics as a field and provides a primer on different modes of genetic variation, the technologies currently used to probe them, and concepts that provide context for interpreting the gene-phenotype relationship. Like other subfields in human genetics, psychiatric genetics is moving from microarray technology to sequencing-based approaches as barriers of cost and expertise are removed, and the ramifications of this transition are discussed here. A summary is then given of recent genetic discoveries in a number of neuropsychiatric conditions, with particular emphasis on neurodevelopmental conditions. The general impact of genetics on drug development has been to underscore the extensive etiological heterogeneity in seemingly cohesive diagnostic categories. Consequently, the path forward is not in therapies hoping to reach large swaths of patients sharing a clinically defined diagnosis, but rather in targeting patients belonging to specific "biotypes" defined through a combination of objective, quantifiable data, including genotype.
“…The complex genetic architecture of the GTS has not yet been fully elucidated, for a review see [38,39,40,41,42,43,44,45,46,47,48,49,50,51,52,53,54]. Several genetic variants have been implicated in the aetiology of GTS.…”
Η διδακτορική μου διατριβή επικεντρώνεται στις υπολογιστικές μεθόδους και τα σύνολα εντολών για την ανάλυση διαφορετικών τύπων γονιδιωματικών, μεταγραφικών και επιγονιδιωματικών δεδομένων με στόχο την κατανόηση της αιτιολογίας του συνδρόμου Gilles de la Tourette (GTS), μιας ψυχιατρικής διαταραχής πολύπλοκου υποβάθρου. Οι εξελίξεις στις τεχνολογίες μικροσυστοιχιών έχουν καταστήσει δυνατή την ανάλυση του γονιδιώματος μεγάλων ομάδων ασθενών παράγοντας τεράστιο όγκο δεδομένων. Η ανάλυση του μεγάλου όγκου δεδομένων από τις τεχνολογίες μικροσυστοιχιών πρέπει να αντιμετωπίσει ένα ευρύ φάσμα προβλημάτων, που εκτείνονται από το βασικό έλεγχο ποιότητας έως τα πολύπλοκα μοντέλα συσχέτισης. Η ανάλυση τέτοιων δεδομένων μεγάλου όγκου υποβάλλονται σε αυστηρό ποιοτικό έλεγχο τόσο σε επίπεδο παραλλαγών όσο και επίπεδο δειγμάτων για την εξάλειψη τεχνικών προβλημάτων που μειώνουν τα ψευδώς θετικά αποτελέσματα της συσχέτισης. Εδώ παρουσιάζουμε τις υπολογιστικές μεθόδους και τα σύνολα εντολών που χρησιμοποιούνται για την ανάλυση της γονιδιακής έκφρασης σε επίπεδο ολόκληρου του γονιδιώματος, των μονονουκλεοτιδικών πολυμορφισμών (SNPs), των παραλλαγών αριθμού αντιγράφων (CNVs) και των μελετών δεικτών μεθυλίωσης DNA. Η εφαρμογή των παραπάνω μεθόδων στο GTS ρίχνουν φως στην αιτιολογία της διαταραχής, εμπλέκοντας πολλά υποψήφια γονίδια προδιάθεσης που δικαιολογούν περαιτέρω διερεύνηση.
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