Figure 3

Association signal at 20p12.3 for social-communication problems at 17 years of age. (a) Chromosome ideogram for chromosome 20. (b) Regional association plot for rs3761168. Directly genotyped and imputed variants are depicted by filled circles according to their genome-wide -log₁₀P-value and their genomic position in megabases (Mb) (build 36). Recombination rates are shown in blue (HapMapCEU, release 22), and the linkage disequilibrium (LD) (r²) between the lead variant and surrounding markers is indicated by the colour code. (c) Detailed genomic region near rs3761168 depicting variants in LD (r² > 0.3) and rare autism related mutations (≥480 kb) within PLCB1. Mutations were either (i) identified in affected family members only [45] or (ii) enriched within patients compared with controls [46] (del, deletions; dup, duplications). The LD (r²) between the lead variant and surrounding SNPs is indicated by the shade of grey (0 (white) to 1 (black)).