Fig 1.
LocusZoom plots showing genome-wide significant associations observed in the meta- analysis.
(A) The observed association for maximal cranial width (MCW) at 15p11.2 and (B) maximal cranial length (MCL) at 17q11.2. LocusZoom plots show the association (left y-axis; log10-transformed p-values) with facial traits. Genotyped SNPs are depicted by asterisks and imputed SNPs are depicted by circles. Shading of the points represent the linkage disequilibrium (r2, based on the 1000 Genomes Project Europeans) between each SNP and the top SNP, indicated by purple shading. Grey points in these plots represent the lack of LD information between the index SNP (diamond) the plotted SNP (circle or asterisk). The blue overlay shows the recombination rate (right y-axis). Positions of genes are shown below the plot.
Table 1.
Significant and suggestive association results from meta-analysis of cranial vault traits.
Fig 2.
Positive linkage result in mice corresponding to two human GWAS signals.
Traits are indicated by color: MCW (orange), MCL (green) and CI (black). The two corresponding human hits (17q11.2 and 17q25.1) are indicated by blue vertical lines. The horizontal line represents the permutation-based empirical threshold for genome-wide statistical significance.
Table 2.
Demographic profile of cohorts.