Fig. 6: Face-associated SNPs under positive selection in Europeans. | Nature Communications

Fig. 6: Face-associated SNPs under positive selection in Europeans.

From: Combined genome-wide association study of facial traits in Europeans increases explained variance and improves prediction

Fig. 6: Face-associated SNPs under positive selection in Europeans.

a Simulations analyses show the positive selection. Grey bars and curves show the expected distribution density from 10,000 simulations under the null hypothesis. The dashed line indicates the one-sided 0.95 cumulative density threshold. Observed values from 253 lead SNPs are highlighted in orange with one-sided empirical p-values. For illustration of the 2q12.1 region (b) and 9p22.3-p22.2 region c under natural selection, Left: C-GWAS combined p-values within 250 kb of the top SNP plotted against PBS results in EUR. Dashed lines indicate suggestive significance threshold for C-GWAS and the top 1% threshold for PBS, respectively. The top SNP is highlighted with a purple diamond, and LD counterparts are in colour scale. The SNP with both a significant facial effect and a selection signal is annotated. Middle: World map of allele frequency for annotated SNPs based on 1000 Genomes Project sub-populations. Base map is from Natural Earth data v1.4.0 (public domain). Right: Regional-PVE effects of annotated SNP. The 3D template facial image in this figure is adapted from White et al.82 published under an Open Access license (CC BY 4.0), see http://creativecommons.org/licenses/by/4.0/.

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