Effect of low-density lipoprotein receptor mutation on lipoproteins and cardiovascular disease risk: a parent-offspring study

摘要: Abstract Studies on the clinical consequences of different low-density lipoprotein (LDL) receptor genotypes in adult patients have yielded conflicting results. We hypothesized that children with familial hypercholesterolemia (FH) provide a better model to perform genotype–phenotype analyses than adults. tested this hypothesis and assessed effect LDL levels parental risk cardiovascular disease (CVD) pediatric FH cohort. identified 75 mutations 645 heterozygous FH; these children, null alleles were clearly associated more elevated cholesterol compared receptor-defective mutations. Familial factors explained 50.4% variation cohort only 9.5% Parental CVD was not significantly between carriers (RR, 1.22; 95% CI, 0.76–1.95; p =0.4). The N543H/2393del9 mutation less deteriorated lipid profile parents had often relative other 0.39; 0.20–0.78; =0.008). could confirm analyses. In particular, but higher parents. Nonetheless, specific milder risk.