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Table 2 Enriched 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 model

From: 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

Category prSNPs prH2 Enrichment
Function: weak enhancer +/−500 bp 0.106 0.299 (0.06) 2.82 (0.61); P = 0.0045
Function: conserved 0.052 0.258 (0.08) 4.94 (1.46); P = 0.0047
Cell: CNS: mid-frontal lobe: H3k27ac 0.027 0.132 (0.04) 4.89 (1.34); P = 0.0056
Function: enhancer +/−500 bp 0.180 0.402 (0.08) 2.24 (0.44); P = 0.0065
Function: DNASE I hypersensitivity site (foetal) +/−500 bp 0.362 0.666 (0.11) 1.84 (0.32); P = 0.0099
Candidate: Mendelian disease [11] genes 0.018 0.040 (0.01) 2.19 (0.49); P = 0.0132
Candidate: PGC schizophrenia GWAS loci [19] 0.014 0.035 (0.01) 2.50 (0.70); P = 0.0211
Function: H3k4me1 0.538 0.771 (0.10) 1.43 (0.19); P = 0.0303
Function: CCCTC-binding factor 0.027 0.129 (0.05) 4.71 (1.75); P = 0.0326
Cell: CNS: hippocampus middle: H3k4me1 0.077 0.211 (0.06) 2.76 (0.81); P = 0.0351
Cell: CNS: angular gyrus: H3k27ac 0.033 0.106 (0.03) 3.25 (1.03); P = 0.0365
Function: digital genomic footprint +/−500 bp 0.621 0.836 (0.10) 1.35 (0.17); P = 0.0399
Function: conserved +/−500 bp 0.449 0.603 (0.07) 1.34 (0.17); P = 0.0488