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Chunk #1 — Introduction

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The ankyrin-3 gene is associated with posttraumatic stress disorder and externalizing comorbidity.
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of 5′ SNPs, including rs10994336, rs10994397, and rs1938526 (Ferreira et al., 2008; Schulze et al., 2009; Scott et al., 2009; Sklar et al., 2011; Tesli et al., 2011) that are in linkage disequilibrium (LD) and represent a single association signal(Sklar et al., 2011). The observed associations with rs9804190 in the 3′ region andthe 5′ region SNPs appear to represent two independent risk loci (Schulze et al., 2009). In addition to the bipolar disorder associations, both rs9804190 (3′ region) and rs1938526 (5′ region) have been associated with altered expression of ANK3 transcripts in human brain (Roussos et al., 2012; Rueckert et al., 2012). Specifically, the rs9804190 major allele C has been associated with lower ankyrin G expression and increased risk of bipolar disorder (Baum et al., 2008; Roussos et al., 2012; Schulze et al., 2009; Sklar et al., 2011), while the rs1938526 minor allele C was associated with lower expression of specific ankyrin G transcripts and increased risk of bipolar disorder (Ferreira et al., 2008; Rueckert et al., 2012; Smith et al., 2009). ANK3 has also been associated with schizophrenia, anhedonia, behavioral activation, and novelty-seeking (Athanasiu et al., 2010; Ripke et al., 2011; Roussos et al., 2011; Roussos et al., 2012),