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Chunk #50 — Discussion

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Fine mapping of ZNF804A and genome-wide significant evidence for its involvement in schizophrenia and bipolar disorder.
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In the absence of evidence for a non-synonymous SNP that explains the association or for direct effects of rs1344706 on expression, if rs1344706 is the true causal variant, its influence on gene function remains to be elucidated. It remains possible that it exerts effects through expression, but like many eQTLs, these are cell specific(26), tissue-region specific, or specific to certain developmental phases. Further expression studies in samples not available to the authors will be required to test these hypotheses. However, the observations of deletion and partial duplication CNVs at the ZNF804A in a schizophrenia and bipolar proband respectively(11) similarly suggests that simple up-regulation of ZNF804A may not be the mechanism relevant to risk to schizophrenia and other major psychiatric disorders