Drug Development Research · 2020 · 10 citations · 49 references
Life SciencesGeneticsPsychiatryMedical GeneticsNeurogeneticsNeuropsychiatryAntipsychotic PharmacologyDopaminergic SignalingMovement Disorder GeneticsNeuropsychiatric GeneticsParkinsonian DisordersPsychiatric GeneticsAntipsychotic PharmacogenomicsAntipsychotic-induced Tardive DyskinesiaCommon Genetic VariantsCross-disorder Genetic AnalysisCross-disorder GeneticsDopamine D2-like ReceptorsPsychiatric GenomicsSchizophrenia Genetics
Tardive dyskinesia (TD) is a potentially irreversible movement disorder observed following long-term antipsychotic exposure. Its cause is unknown; however, a genetic component has been supported by studies of affected families. Dysbindin-1, encoded by the dystrobrevin-binding protein 1 DTNBP1 gene, has been associated with schizophrenia and is potentially involved in dopamine neurotransmission through its regulation of dopamine release and dopamine D2 receptor recycling, making it a candidate for investigation in TD. We investigated common variants across the DTNBP1 gene in our schizophrenia/patients with schizoaffective disorder of European ancestry. We found a number of DTNBP1 three-marker haplotypes to be associated with TD occurrence and TD severity (p < 0.05). These preliminary findings, if replicated in larger independent samples, would suggest that drugs targeting dysbindin-1 may be an option in the prevention and treatment of TD.
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Haploview: analysis and visualization of LD and haplotype maps
Jeffrey C. Barrett, Ben Fry, Julian Maller et al. · Bioinformatics · 2004 · 14.7K citations · Full text
The Genotype-Tissue Expression (GTEx) project.