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Chunk #3 — RESULTS — Follow-up of suggestive loci in additional samples

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Genome-wide association study identifies 30 loci associated with bipolar disorder.
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We tested lead variants that were significant at P<1×10−4 in our discovery GWAS meta-analysis, a total of 794 autosomal and 28 X chromosome variants, for association in follow-up samples totaling 9,412 cases and 137,760 controls of European ancestry (effective sample size 23,005; Supplementary Note and Supplementary Table 1B). We first compared discovery and follow-up sample summary statistics using LD score regression, and estimated their genetic correlation to be 0.98 (se=0.07), consistent with homogeneous genetic effects between the two samples. Discovery and follow-up samples also show similar patterns of significant genetic correlations with a range of other human diseases and traits in the LD Hub database 26 (Supplementary Table 3; correlation of 0.93, p = 8.3×10−14, Supplementary Figure 3).