rs1011313

This comprehensive review examines the genomics of schizophrenia and pharmacogenomics of antipsychotic drugs, synthesizing evidence on over 200 genes associated with psychotic disorders. The authors discuss five categories of genes relevant to antipsychotic response: disease-associated genes, mechanism-of-action genes, drug metabolism genes (particularly CYP2D6, CYP2C19, CYP2C9, CYP3A4), drug transporter genes, and pleiotropic genes. The review details pharmacogenomic profiles of 20+ antipsychotic drugs and demonstrates significant ethnic and interindividual variation in drug metabolism phenotypes, with examples including CYP2D6 extensive metabolizers (55.71% of population), intermediate metabolizers (34.7%), poor metabolizers (2.28%), and ultra-rapid metabolizers (7.31%).

This comprehensive review synthesizes genomic and pharmacogenomic research in schizophrenia, discussing over 200 candidate genes associated with psychotic disorders, genetic mechanisms including copy number variants and microRNA alterations, and pharmacogenomic factors affecting antipsychotic efficacy and safety. Key genes covered include dopamine receptors (DRD1-5), dysbindin (DTNBP1), DISC1, neurotrophic factors, and metabolic enzymes such as CYP2D6, CYP3A4, and COMT, with emphasis on genotype-phenotype correlations in antipsychotic response and side effects.

This case-control study of 908 Korean schizophrenia patients and 601 controls investigated DTNBP1 gene variation using 4 SNPs (rs3213207, rs1011313, rs760761, rs2619522). Haplotype analysis revealed significant associations with schizophrenia (P < 0.0001), with the A-C-T-A and A-C-C-C haplotypes showing protective effects. The rs760761-rs2619522 haplotype block contributed most to the difference between cases and controls, but individual SNPs showed no significant associations.

This study examined the association between DTNBP1 (dysbindin) gene polymorphisms and bipolar I disorder in a Korean population of 151 patients and 478 controls. The 5-SNP haplotype A-C-G-T-A showed a significant protective effect against bipolar disorder (P = 0.00016), as did the 3-SNP haplotype G-T-A (P = 0.00007). Single marker analyses found no significant associations.