Fig. 4.

Polymorphic uORF alters FXII protein expression. (A) 5′ UTR sequence of FXII shown with 2 SNP variants, where the T allele creates a uORF (red text). Below are 8 constructs with introduced mutations (underlined text), where colored text indicates a uORF (red) or in-frame alternative start (green). (B) Luciferase activity from reporter constructs listed in A. Error bars represent ±SD of ≥6 biological replicates. (C) Metaanalysis of plasma FXII activity levels measured by 5 independent studies, stratified by genotype of SNP rs1801020.