Abstract
Association of Rare Genetic Variants in Opioid Receptors with Tourette Syndrome
Highlights
We identified a total of 3,755 rare variants altering coding opioid receptor kappa 1 (Oprk[1]: NM_182886) gene in zebrafish. sequences or splice sites in 3,041 genes
We identified in 19 unrelated index probands. observed rare variants possibly altering other genes involved in opioid
In an attempt to circumvent this difficulty, we focused on candidate genes enriched in brain structures relevant to Tourette syndrome (TS) pathophysiology, that is, the basal ganglia
Summary
Tourette syndrome (TS) is a neurodevelopmental disorder characterized by multiple involuntary motor and vocal tics that typically begin in childhood and have a waxing and waning course.[1,2,3] Twin studies have provided compelling evidence that TS is genetically determined,[4,5,6,7] but the nature of the involved genetic factors, their mode of inheritance, and the mechanisms by which they act remain largely unknown.Recent studies have emphasized that the genetic architecture of TS is very likely oligo- (i.e., involving a few gene loci) or poly-genic (i.e., influenced by many genes as well as environmental factors) and overlaps with that of frequently comorbid disorders, such as autism spectrum disorders, obsessive-compulsive disorder (OCD), attention deficit hyperactivity disorder (ADHD), and depression.[8,9,10] Main genes possibly involved in TS so far include NRXN1, CNTN6, CELSR3, SLITRK1, and HDC.[11,12,13,14,15,16,17,18,19,20,21,22] SLITRK1 encodes a transmembrane protein modulating neurite outgrowth belonging to a family comprising six paralogues (SLITRK1 to SLITRK6) in mammals.[23,24] HDC encodes histidine decarboxylase, the enzyme catalyzing the synthesis of histamine through decarboxylation of histidine.[11]. Tourette syndrome (TS) is a neurodevelopmental disorder characterized by multiple involuntary motor and vocal tics that typically begin in childhood and have a waxing and waning course.[1,2,3] Twin studies have provided compelling evidence that TS is genetically determined,[4,5,6,7] but the nature of the involved genetic factors, their mode of inheritance, and the mechanisms by which they act 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
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