Fig. 6. Associations between mQTLs and selected phenotypes and diseases in the UK Biobank reveal pathophysiological insights.

For each genetic region with evidence for colocalization (H4 ≥0.8, Methods) of genetic associations with metabolites and a UK Biobank (UKBB) trait (index SNP P < 5×10⁻⁸), the strongest associated mQTL and selected traits are displayed. Color coding illustrates th e direction of association of the index SNP with the listed metabolite and UK Biobank trait. The strength of associations assessed by their P value is marked with symbols as indicated in the key. The traits are sorted into five groups: blood count-based parameters, anthropometry, lifestyle, medical conditions and skin color (left to right, x axis). The left y axis contains information about the index SNP for each association and the most likely causal gene; the right y axis lists the corresponding metabolite, with the total number of associated and colocalizing metabolites in the region provided in parentheses and individual metabolites listed in Supplementary Table 13. Genes for which incorporation of existing biochemical and biological knowledge would have led to prioritization of another most likely causal gene are marked with a # (see Supplementary Note). The meaning of asterisks in a metabolite’s name is explained in the footnote of Supplementary Table 2.