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Chunk #22 — 4. Discussion

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Evidence of allelic imbalance in the schizophrenia susceptibility gene ZNF804A in human dorsolateral prefrontal cortex.
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We were unable to confirm the association of rs1344706 with schizophrenia in our CVCR cohort. This is consistent with some recent GWAS replication studies, and recent meta-analyses conducted with Chinese population cohorts (Li et al., 2011; Li et al., 2013). The A allele frequency of rs1344706 in our control group was 0.60, which is similar to the frequencies reported for samples with European ancestry. However, we observe a significant association with an increase risk of SZ for the minor A allele of the exonic SNP rs12476147 (p-value = 0.026), which is in agreement with published data (Williams et al., 2011). In this analysis, we use a one-tailed test, since rs12476147 had been previously associated, so there was a prior direction of effect to assume. Further, given the extent of LD between rs1344706 and rs12476147, it can be argued that a specific allele at rs12476147 (the allele most commonly found with the A risk allele at rs1344706) could be identified a priori.