Table 1. Incidence of FH gene mutant alleles in autosomal dominant FH.
Genetic hypercholesterolemia | FH classification | FH gene mutation | Homozygote (n), (%) | Heterozygote (n), (%) | Total mutant alleles (n), (%) |
---|---|---|---|---|---|
Autosomal dominant hypercholesterolemia (ADH) | ADH1 | LDL-R | 69 (84.1%) | 757 (71.8%) | 826 (72.6%) |
ADH2 | APO-B | 0 (0%) | 0 (0%) | 0 (0%) | |
ADH3 | PCSK9 | 13 (15.9%) | 62 (5.9%) | 75 (6.6%) | |
ADH4 | STAP1 * | 0 (0%) | 0 (0%) | 0 (0%) | |
Unknown | 0 (0%) | 236 (22.4%) | 236 (20.8%) | ||
Total | 82 (100%) | 1055 (100%) | 1137 (100%) |
FH genes: LDL-R gene, apolipoprotein B-100 (Apo-B) gene, PCSK9 gene and STAP1
STAP1*: not studied