Fig. 4: Association of mQTLs and implicated genes with clinical biomarkers, diseases and phenotypes in genetically manipulated mice.

a, Colocalization of mQTLs with clinical markers of kidney (eGFR) and liver (ALT) function. mQTLs are represented by the implicated genes on the x axis. The size of the pie represents the total number of colocalizations grouped into four categories. The slices in each pie colored in red and blue represent the proportion of colocalizations of plasma and urine mQTLs with the respective markers. b, Effect size (continuous traits) and odds ratio (binary traits) estimates from tests comparing carriers and noncarriers of rare, presumed deleterious mutations in a gene (Supplementary Table 15; gene-based testing; Methods). The matrix of the origin of mQTL-implicated genes is color coded (red, plasma; blue, urine; purple, both). ApoA, apolipoprotein A; γ-GT, gamma glutamyltransferase; HDL, high-density lipoprotein; LDL, low-density lipoprotein; Lp(a), lipoprotein A. c, Over-representation of the 282 genes identified in the mGWAS among phenotypes arising from genetically manipulated mice as part of the Mouse Genome Informatics resource. Only the 15 significant terms with the lowest P values are shown (Fisher’s exact test); a full list is found in Supplementary Table 20.