LDL-C gene score analysis found that 31 (29 mutation negative) patients had an SNP score in the top decile of the general population and therefore had a definite polygenic aetiology, and an additional five had a potential functional variant in CH25H or INSIG2. This means that the explanation for the FH phenotype is still lacking in 50% of the patients, suggesting that some causal variants may have been missed at different stages of the data processing or analysis. Here, INSIG2 is linked to familial hyperaldosteronism.