rs5326

Case-control study of 382 schizophrenic patients (220 with tardive dyskinesia, 162 without) examining DRD1 gene polymorphisms. SNP rs4532 showed significant association with tardive dyskinesia (P=0.033, OR=2.0 for GG genotype), and haplotype CGC (rs5326-rs4532-rs265975) was also significantly associated with TD (OR=1.4, permutation P=0.027).

Association study of 5 polymorphisms in the DRD1 gene (dopamine D1 receptor) in 512 schizophrenia patients and 614 controls from Munich. rs4867798 showed nominal significance with genotype distribution differences (p=0.018, OR=1.348 for C-allele carriers in dominant model). No significant associations were found for rs5326, rs267418, rs2453741, or rs1508765.

This case-control association study of 650 German migraine with aura (MA) patients and 650 controls tested 53 variants across 10 dopaminergic system genes. Three SNPs in the dopamine-beta hydroxylase (DBH), dopamine transporter (SLC6A3), and dopamine D2 receptor (DRD2) genes showed significant associations with MA. After gene-wide correction, rs2097629 in DBH (OR=0.77, p=0.0012) and rs40184 in SLC6A3 (OR=0.81, p=0.0082) remained significant, with supporting evidence from 2,937 British controls. These findings provide genetic evidence for dopaminergic system involvement in MA pathogenesis.

Haplotype-tagging SNP analysis in 364 individuals from 152 ADHD families identified significant associations between commission errors and SNPs in the DRD2 gene (rs2075654, rs1079596) and between reaction time variability and a SNP in the NET gene (rs3785155). These findings suggest that commission errors and reaction time variability are valid ADHD endophenotypes linked to dopaminergic and noradrenergic pathways.