The zinc finger protein 804A (ZNF804A) gene represents a robustly replicated locus for schizophrenia (SZ). The rs1344706 SNP, located in intron 2 of ZNF804A, was the first risk variant to achieve genome-wide significance for psychosis (O'Donovan et al., 2008). Since then ZNF804A has been extensively investigated, and the association of rs1344706 has been further confirmed by a number of independent replications studies in several European populations (Riley et al., 2010; Steinberg et al., 2011; Zaharie et al., 2012; Zhang et al., 2011a; Zhang et al., 2012). Furthermore, a meta-analysis of more than 55,000 subjects (Williams et al., 2011) found genome-wide significant association of rs1344706 with SZ (p = 2.5×10–11), and the result was strengthened when bipolar disorder (BD) samples were added into the meta-analysis (p = 4.1×10–13) even though the effect size remained relatively small (odds ratio = 1.10, 95% confidence interval = 1.07–1.14). This intronic SNP remained the most strongly associated marker in the gene, even after a fine-scale linkage disequilibrium (LD) mapping (Williams et al., 2011), and extensive re-sequencing of ZNF804A showed no evidence for a role of moderately rare non-synonymous coding variants in the association of ZNF804A with SZ (Williams et al., 2011).
