rs1800498

Association study of 55 SNPs in 887 Hungarian adults examining genetic predisposition to aggression measured by the Buss-Perry Aggression Questionnaire. The HTR2A rs7322347 intronic variant showed significant association with aggression after Bonferroni correction (p = 0.0007), with carriers of the minor A allele showing lower aggression levels. The DRD4 rs916455 variant also showed nominal significance (p = 0.0275) but did not survive multiple testing correction.

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 review comprehensively summarizes the latest genetic studies on schizophrenia, including family studies (heritability ~80%), genome-wide association studies, epigenetic mechanisms, candidate gene investigations, and next-generation sequencing findings. Key GWAS findings identified 108 schizophrenia-associated loci including variants in MIR137 (rs1625579), TCF4 (rs12966547), CSMD1 (rs10503253), CACNA1C (rs4765905), ANK3 (rs10761482), and MHC region variants, with evidence for polygenetic inheritance involving both common SNPs and rare copy number variations.

This systematic review of 98 studies examined biological predictors of clozapine response in treatment-resistant schizophrenia patients. Of 379 different gene variants investigated across 70 genetic studies, only three variants (DRD3 Ser9Gly rs6280, HTR2A His452Tyr, and GNB3 C825T) achieved independent replication. Non-genetic predictors included higher prefrontal cortical volumes and lower HVA:5-HIAA ratio in cerebrospinal fluid.

A systematic review of 98 studies investigating biological predictors of clozapine response in treatment-resistant schizophrenia. Of 70 genetic studies examining 379 variants, only three genetic variants have independently replicated findings: DRD3 Ser9Gly (rs6280), HTR2A His452Tyr, and GNB3 C825T (rs5442/rs5443). Non-genetic predictors include higher prefrontal cortical structural integrity and activity, and lower HVA:5-HIAA ratio in cerebrospinal fluid.

This study evaluated the impact of population admixture on genetic association studies of type 2 diabetes and end-stage renal disease in African Americans using 70 ancestry informative markers (AIMs) genotyped in 577 cases and 596 controls. Eight T2DM candidate genes (TCF7L2, PPARG, CAPN10, KCNJ11, TCF1, HNF4A, ESR1, ENPP1) with 208 SNPs total were analyzed for association, with 47 SNPs (22.6%) nominally associated before admixture adjustment, but 9 of those (4% overall, 19% of associated SNPs) lost significance after adjusting for African ancestry. The admixture impact on association results was significantly correlated with absolute delta values (differences in allele frequencies between Yoruba and European populations) across dominant (r²=0.1997, P=0.0051), additive (r²=0.2662, P=0.0015), and recessive (r²=0.1735, P=0.0410) models.

This case-control association study examined five DRD2 polymorphisms in 213 schizophrenia patients and 196 controls from South India. H313H TT genotype was significantly associated with schizophrenia (P=0.004) and with better antipsychotic treatment response, while TaqIA A1A1 genotype was protective (P=0.029). DRD2 variants showed distinct associations with specific symptoms and treatment outcomes, highlighting ethnic and cultural factors in disease manifestation and antipsychotic response.