rs10132223

Genome-wide association study of electrophysiological endophenotypes in schizophrenia and psychotic bipolar disorder identified a genomewide significant locus on chromosome 14 associated with sensory gating (peak SNP rs10132223, P = 1.27 × 10^-9), with the nearest gene being FLRT2. Polygenic risk scores showed that higher schizophrenia risk allele load was associated with reduced gamma oscillation, while higher bipolar disorder risk allele load was associated with smaller P3 amplitude, indicating genetic overlap between disorder loci and ERP endophenotypes.

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.