Extended Data Fig. 7
From: Genetic associations of protein-coding variants in human disease
(a) Simplified diagram of the coagulation cascade. Factors (in roman numerals, “a” represents activated) with genetic association with PE highlighted in orange. Blue line (round end) indicates inhibitory effect of APC on VIIIa and Va. (b) Schematic of potential pathway from missense variants in F5 and F10 to PE risk. Factor V Leiden variant had null associations with F5 levels (βF5 levels=0.21, p = 0.091). Dashed blue lines suggest effect of the variants on PE risk which we assume under MR framework acts through factor levels (solid blue lines). Grey box and arrows represent known pathway for Factor V Leiden mutation. GOF: Gain of function, APC: Activated protein C, MR: Mendelian randomisation, PE: Pulmonary embolism.
