rs1564483

This study examined three BCL2 single-nucleotide polymorphisms (c.-938C>A rs2279115, c.21G>A rs1801018, and c.*2203A>G rs4987853) in 179 bladder cancer patients and found significant associations with survival outcomes. The c.-938C>A polymorphism was associated with relapse-free survival (p=0.024), while c.21G>A showed stronger associations with both relapse-free survival (p=0.009) and progression-free survival (p=0.012), demonstrating pronounced allele dose effects in both cases. The c.*2203A>G polymorphism showed no significant survival associations.

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).