title: Searching for functional SNPs or rare variants in exonic regions of DRD3 in risperidone-treated patients.
abstract: Previously one intronic DRD3 SNP, rs167771, was associated with risperidone-induced extrapyramidal side-effects (EPS). The aim of the present study was to search hitherto unidentified common functional variants or rare variants, in DRD3 associated with risperidone-induced EPS. 126 subjects treated with risperidone participated in this study. We sequenced the seven exons of DRD3. After sequencing we localized five dbSNPs and four new rare variants. None of the dSNPs or rare variants seems to be functional after bioinformatics analysis. Our results suggest that, rather than exonic regions, regulatory regions and introns could be related to the associations reported for DRD3 and the incidence of locomotor side-effects.
authors.affiliation: Dept. of Anatomic Pathology, Pharmacology and Microbiology, University of Barcelona, Casanova 143, E-08036 Barcelona, Spain.
authors.forename: Patricia
authors.initials: P
authors.lastname: Gassó
authors.forename: Sergi
authors.initials: S
authors.lastname: Mas
authors.forename: Cristina
authors.initials: C
authors.lastname: Oliveira
authors.forename: Miquel
authors.initials: M
authors.lastname: Bioque
authors.forename: Eduard
authors.initials: E
authors.lastname: Parellada
authors.forename: Miquel
authors.initials: M
authors.lastname: Bernardo
authors.forename: Gemma
authors.initials: G
authors.lastname: Trias
authors.forename: Joaquim
authors.initials: J
authors.lastname: Comeche
authors.forename: Amalia
authors.initials: A
authors.lastname: Lafuente
mesh_terms: D000328:Adult; D014150:Antipsychotic Agents / Q000009:adverse effects* / Q000627:therapeutic use; D001480:Basal Ganglia Diseases / Q000139:chemically induced / Q000235:genetics*; D016022:Case-Control Studies; D015331:Cohort Studies; D039721:Diagnostic and Statistical Manual of Mental Disorders; D018492:Dopamine Antagonists / Q000009:adverse effects* / Q000627:therapeutic use; D005091:Exons; D005260:Female; D056726:Genetic Association Studies; D014644:Genetic Variation; D006801:Humans; D008297:Male; D009154:Mutation; D020641:Polymorphism, Single Nucleotide; D011618:Psychotic Disorders / Q000188:drug therapy / Q000235:genetics; D050637:Receptors, Dopamine D3 / Q000235:genetics*; D018967:Risperidone / Q000009:adverse effects* / Q000627:therapeutic use; D013030:Spain; D055815:Young Adult
chemical_list: D014150:Antipsychotic Agents; C493593:DRD3 protein, human; D018492:Dopamine Antagonists; D050637:Receptors, Dopamine D3; D018967:Risperidone