File:Overview of GWAS for facial features.jpg

English: GWAS using data for 14 ordinal facial features from the lower, middle and upper face in 5,958 individuals. For follow-up, we obtained quantitative proxies for 9 of the 14 ordinal traits initially examined (and also obtained a measure of nasion position) in a subset of 2,955 individuals, and performed another GWAS. For convenience, we summarize results across traits on a single ‘composite’ Manhattan plot shown at the bottom of the figure (ordinal traits on the left and quantitative traits on the right). Each Manhattan plot displays all the SNPs with P values exceeding thresholds for genome-wide suggestive (10−5, blue line) or genome-wide significance (5 × 10−8, red line) for any trait. To avoid cluttering the figure, P values not reaching the suggestive threshold (that is, whose significance can be disregarded) are shown only for one trait (upper lip thickness). The names of the candidate genes closest to each association peak are provided (Table 1). These genes are connected with the list of associated facial features via lines of different colour. The location of these features is illustrated on the face drawings shown at the top of the figure. Face drawings were prepared by Emiliano Bellini. PAR, pseudo-autosomal region.