Four reported variants identified in FH patients within the LDLR 5′UTR and promoter were investigated.6 The c.-13A>G variant showed no difference in luciferase activity, suggesting it is not FH causing, whereas c.-101C and c.-121C showed a significant lower expression, suggesting that these variants are likely to be pathogenic and causal of the FH phenotype seen in these patients, and the status of c.-215A>G remains unclear. This evidence concerns the gene LDLR and familial hyperaldosteronism.