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Chunk #16 — Results — Genome-wide analysis in the RDC schizoaffective disorder, bipolar type group v. controls

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Genetic utility of broadly defined bipolar schizoaffective disorder as a diagnostic concept.
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As our analysis provided evidence that the RDC schizoaffective disorder, bipolar type diagnostic criteria identified a bipolar phenotype with a particularly strong utility for genetic studies, which can be considered a form of genetic validity, we present the results of the genome-wide analysis for the RDC schizoaffective disorder, bipolar type diagnostic set. For the strongest hits in our observed data, we visually inspected genotype clusterplots as a further check of genotyping quality. Independently associated SNPs that exceed a significance threshold of P<10–5 (all of which have good quality clusterplots) are shown in Table 2. For each independent signal, the table also shows the number of nearby SNPs that are in linkage disequilibrium (i.e. closely correlated) with the index SNP and thereby provide quality control criteria to check for any additional strongly supported association signals. This revealed one additional independent signal (rs4786811 on chromosome 16p13.3) at a significance threshold of P<10–5 that hadbothanacceptable clusterplotand also support from a closely correlated SNP. The clusterplots for these SNPs can be found in the online supplement, as can a list of all SNPs (online Table DS2) showing nominally significant association (P<0.05).