rs2312147

A case-control study in 493 Chinese Han schizophrenia patients and 493 controls found that the C allele of rs4380187 (near ZNF804A) was significantly associated with decreased schizophrenia risk (OR=0.79, 95% CI: 0.66-0.94, p=0.008). The AA genotype showed significantly lower frequency in cases (OR=0.62, p=0.009), and associations were stronger in males (OR=0.64-0.68, p=0.002-0.003) and individuals aged ≥36 years.

A comprehensive review of the genetics and epigenetics of schizophrenia, covering candidate gene associations, genome-wide association studies (GWAS), gene expression studies, and epigenetic mechanisms. The review highlights major GWAS findings including associations with CSMD1 (rs10503253), CACNA1C (rs4765905), SLC30A3 (rs11126936, rs11126929), VRK2 (rs2312147), MPC2 (rs10489202), miR-137 (rs1625579), and MKL1 (rs6001946), while discussing the complex polygenic architecture of the disorder with heritability estimated at 81-85%.

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.