Autosomal Dominant Hypercholesterolemia (ADH) is a heterogeneous common disorder characterized by elevated levels of plasma low-density lipoprotein (LDL-C), total cholesterol, and increased risk of cardiovascular disease. Uncovering the molecular determinants that underlie ADH is a major focus of cardiovascular research, but despite rapid technical advances, efforts to identify novel ADH genes have yet not been very successful.<\/p>\n
Commonly used noveI-gene-finding criteria are LDL-C levels above the 95th<\/sup> percentile and a disease penetrance of 0.9. However, by applying such criteria the phenotypic and genetic heterogeneity of ADH will be largely ignored.<\/p>\n Our findings clearly showed that adjusted and refined phenotypic definitions within ADH families are necessary to increase the change of identifying novel genes associated with the ADH phenotype, and using a cut-point at the 75th<\/sup> percentile seems to be justified. (By Dr. Sigrid Fouchier, http:\/\/jmg.bmj.com\/content\/early\/2014\/11\/20\/jmedgenet-2014-102653<\/a> )<\/p>\n","protected":false},"excerpt":{"rendered":" Autosomal Dominant Hypercholesterolemia (ADH) is a heterogeneous common disorder characterized by elevated levels of plasma low-density lipoprotein (LDL-C), total cholesterol, and increased risk of cardiovascular disease. Uncovering the molecular determinants that underlie ADH is a major focus of cardiovascular research, but despite rapid technical advances, efforts to identify novel ADH genes have yet not been […]<\/p>\n