GWAS, replication, and meta-analysis results of replicated association signals.

<p>GWAS, replication, and meta-analysis results of replicated association signals.</p

<i>SCHIP1</i> locus associated with centroid size.

<p><b>(A)</b> Regional association plot of centroid size at the <i>SCHIP1</i> locus. Association data are shown using GWAS P-values with the meta-analysis P-value for the lead SNP, rs79909949. The LD pattern is based on the 1000 Genomes Project 2012 African reference and GRCh37/hg19. The estimated recombination rate (cM/Mb) is from HapMap samples. <b>(B)</b> Relative facial size at the upper and lower 95% confidence intervals for centroid size after adjusting for sex and age.</p

Expression of <i>Schip1</i> and <i>Pde8a</i> during mouse embryonic development.

<p>Whole-mount <i>in situ</i> hybridization of <b>(A-D)</b> <i>Schip1</i> and <b>(E-H)</b> <i>Pde8a</i> expression in mouse embryos from E9.5 to E12.5. ba1, first branchial arch (future mandible); ba2, second branchial arch; fb, forebrain; fn, frontonasal process; fl, forelimb; hb, hindbrain; hl, hindlimb; ln, lateronasal process; mb, midbrain; md, mandible; mn, medionasal process; mx, maxilla; ov, otic vesicle.</p

Facial size and shape phenotypes tested for genetic association.

<p>Facial size and shape phenotypes tested for genetic association.</p

3D Facial scan with annotated landmarks.

<p>3D facial mesh obtained for each study individual with study landmarks obtained from automatic landmarking overlaid and labeled.</p

World Health Organization 2007 reference BMI Z-scores for the Tanzanian study population.

<p>Histogram of Tanzanian Z-scores calculated from WHO 2007 reference data by age and sex with WHO cutoffs for thinness and overweight classifications.</p

<i>SCHIP1</i> locus associated with PC4.

<p><b>(A)</b> Regional association plot of PC4 at the <i>SCHIP1</i> locus. Association data are shown using GWAS P-values. The most associated SNP rs368386044 could not be displayed in the LocusZoom plot, but is in complete linkage disequilibrium with rs9868698. See <b><a href="http://www.plosgenetics.org/article/info:doi/10.1371/journal.pgen.1006174#pgen.1006174.g003" target="_blank">Fig 3</a></b>legend for details. <b>(B)</b> Morphs showing the range of shape variation along PC4. The heatmap depicts the regions of the face that vary the most between the min and max morphs. Red shows the regions that project most beyond the mean mesh at the positive extreme while yellow is intermediate in that direction. Blue shows the areas that project most inwards from the mean mesh while light blue shows a lesser degree of inwards projection. Green shows those regions that align most closely to the mean mesh.</p