rs138880

This comprehensive family-based replication study tested 8,107 SNPs in 6,298 individuals (3,286 schizophrenia cases) from 1,811 nuclear families, following a meta-analysis of 18 schizophrenia GWAS studies. The study replicated major findings in TCF4 (P=2.53×10⁻¹⁰) and NOTCH4 (P=3.16×10⁻⁷), and identified novel susceptibility loci including POM121L2 (P=3.51×10⁻⁷), AS3MT (P=9.01×10⁻⁷), CNNM2 (P=6.07×10⁻⁷), and NT5C2 (P=4.09×10⁻⁷). Pathway analyses revealed significant enrichment in neuronal function (axonal guidance, neuronal systems, L1 cell adhesion) and immune system pathways (antigen processing, T-cell adhesion molecules).

Association study of BRD1 gene with schizophrenia in a Japanese population (626 cases, 770 controls) examining 10 directly genotyped and 20 imputed SNPs. No significant association was detected between BRD1 and schizophrenia, although rs138880 showed the same trend as previous Scottish studies. Meta-analysis combining this study with the Scottish study yielded a pooled OR of 1.25 (95% CI = 1.03–1.52, P = 0.02) for rs138880.