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- W2746920248 abstract "Background Tardive dyskinesia (TD) is a movement disorder manifested as involuntary movement of orofacial muscles or choreoathetoid movements of trunk and limbs. Commonly observed in schizophrenia, TD is potentially a persistent and irreversible condition associated with sustained antipsychotic treatment. While various theories have been put forth, the pathophysiology of TD is still unclear, with no well-accepted treatment. The occurrence of TD in only some patients appears to suggest possible individual genetic susceptibly. Recent genome-wide association studies (GWAS) have identified several candidate genes such as the GLI2 and HSPG2, however, none of these candidate genes were identical to those from candidate gene studies. Here, we performed a GWAS on TD schizophrenia patients of Chinese ethnicity. Methods The sample consisted of 842 schizophrenia patients of Chinese ethnicity, recruited from the Institute of Mental Health Singapore. Diagnosis of schizophrenia was ascertained on the Structured Clinical Interview for DSM-IV, and dyskinesia was rated on the Abnormal Involuntary Movement Scale (AIMS). Genotyping was performed using the Illumina 1M Duo Beadchip. Standard GWAS QC procedures were carried out. QC-ed markers were phased with SHAPEIT and imputed via Minimac3 (MACH) to the 1000 Genomes Project Phase 3 reference panel (GRch37). Subsequent association tests were conducted on PLINK2. Results None of the markers reached genome-wide significance. One-hundred top SNPs (top SNP: rs55823922, Rsq = 0.999, MAF = 0.241, Beta = 0.244, SE= 0.0485, p = 6.323x10-07) were identified. The genes in closest proximity to top SNPs are P2RY1 (purinergic receptor P2Y1), RAP2B (RAS protein 2B) and MBNL1 (Muscleblind like splicing regulator 1). Discussion None of the genes associated with TD were implicated in psychiatric conditions. The purinergic receptor 1 protein functions as a receptor for extracellular adenine nucleotides, and mediates adenosine diphosphate (ADP) induced intracellular calcium mobilisation in platelet binding; it is implicated in Alzheimer’s disease. The RAP2B is involved in cell growth, differentiation, and apoptosis, and is implicated in the Epidermal Growth Factor Receptor and Cholinergic Signalling pathways. MBNL1 is a member of the muscleblind protein family which has been implicated in myotonic dystrophy, a condition characterised by muscle abnormalities and muscle wasting. These susceptibility genes appear to be involved in neurodegenerative conditions, and are congruent with the neurodegenerative theory of TD. Further replication is warranted." @default.
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- W2746920248 date "2017-01-01" @default.
- W2746920248 modified "2023-09-23" @default.
- W2746920248 title "Genome-Wide Association Of Tardive Dyskinesia: Preliminary Findings" @default.
- W2746920248 doi "https://doi.org/10.1016/j.euroneuro.2016.09.531" @default.
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