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Chunk #20 — Results — Replication

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Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia.
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Meta-analysis of the PGC ASD—deCODE/SEED data did not result in any GWS findings. However, the top-ranked loci do identify genes previously implicated in ASD such as EXOC4 [42], ANO4 [43], EXT1 [44], and ASTN2 [45]. Similarly, a combined meta-analysis of both PGC plus iPSYCH plus deCODE/SEED datasets did not identify markers exceeding the GWS threshold. The top-ranked locus resulting from this analysis was again rs1409313-T, albeit not achieving GWS (OR = 1.10 (95% CI 1.06–1.14); P = 1.47 × 10−6). In addition to rs1409313-T, the top-ranked associations include markers tagging HDAC4, MACROD2, and EXOC4. A summary of the meta-analysis results is provided in the Additional file 4.