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Chunk #26 — Results — Gene-based and gene-set analyses

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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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either the INRICH or LD score analyses.Table 2Enriched heritability by functional, cellular, and candidate gene-set annotations. prSNPs refers to proportion of SNPs in the model, prH2 refers to proportion on the heritability (SE) attributed to the annotation set, and enrichment refers to the enrichment (SE; P value) in heritability given the number of SNPs in the modelCategoryprSNPsprH2EnrichmentFunction: weak enhancer +/−500 bp0.1060.299 (0.06)2.82 (0.61); P = 0.0045Function: conserved0.0520.258 (0.08)4.94 (1.46); P = 0.0047Cell: CNS: mid-frontal lobe: H3k27ac0.0270.132 (0.04)4.89 (1.34); P = 0.0056Function: enhancer +/−500 bp0.1800.402 (0.08)2.24 (0.44); P = 0.0065Function: DNASE I hypersensitivity site (foetal) +/−500 bp0.3620.666 (0.11)1.84 (0.32); P = 0.0099Candidate: Mendelian disease [11] genes0.0180.040 (0.01)2.19 (0.49); P = 0.0132Candidate: PGC schizophrenia GWAS loci [19]0.0140.035 (0.01)2.50 (0.70); P = 0.0211Function: H3k4me10.5380.771 (0.10)1.43 (0.19); P = 0.0303Function: CCCTC-binding factor0.0270.129 (0.05)4.71 (1.75); P = 0.0326Cell: CNS: hippocampus middle: H3k4me10.0770.211 (0.06)2.76 (0.81); P = 0.0351Cell: CNS: angular gyrus: H3k27ac0.0330.106 (0.03)3.25 (1.03); P = 0.0365Function: digital genomic footprint +/−500 bp0.6210.836 (0.10)1.35 (0.17); P = 0.0399Function: conserved +/−500 bp0.4490.603 (0.07)1.34 (0.17); P = 0.0488