Fig. 2.

LDL-C genetic risk score analysis based on a 6-SNP score (Futema et al. 2015). Genotypes for 6 LDL-C-associated SNPs were available for 91 out of 101 studied FH patients. For additional nine patients with a one missing APOE genotype we assumed that they had the E3E3 isoform (the most common). One more patient had a missing rs6511720 genotype and we assumed that the patient did not have the risk allele for this SNP. The highest mean score (standard deviation (SD)) was observed in individuals with the clinical diagnosis of FH where no mutation detected (0.68 (± 0.21)). Individuals from the control cohort (WHII) had the lowest mean score (SD) (0.63 (± 0.22)), whereas those with a confirmed FH mutation had intermediate score (0.67 (± 0.21)). The differences between the FH patients and the control did not reach a statistical significance.