Background: The monogenic defect in familial hypercholesterolemia (FH) is detected in ∼40% of cases. The majority of mutation-negative patients have a polygenic cause of high LDL-cholesterol (LDL-C). We sought to investigate whether the underlying monogenic or polygenic defect is associated with the response to rosuvastatin. Methods: FH Individuals were tested for mutations in LDLR and APOB genes. A previously established LDL-C-specific...

Background The underlying monogenic defect in familial hypercholesterolemia (FH) can be detected in ∼40% of cases. The majority of mutation-negative patients have a polygenic cause of high LDL-cholesterol (LDL-C) due to having inherited a greater than average number of common LDL-C raising single nucleotide polymorphisms (SNPs). Purpose We sought to investigate, whether the monogenic or polygenic defect in FH is associated with...

Familial hypercholesterolemia (FH) is a highly undiagnosed disease. Among FH patients, the onset of premature coronary artery disease is 13 times higher than in the general population. Early diagnosis and treatment is essential to prevent cardiovascular diseases and their complications, and to prolong life. One of the clinical criteria of FH is the occurrence of a corneal arcus (CA) among patients, especially those under 45 years...

The final therapeutic effect of a drug candidate, which is directed to a specific molecular target strongly depends on its absorption, distribution, metabolism and excretion (ADME). The disruption of at least one element of ADME may result in serious drug resistance. In this work we described the role of one element of this resistance: phase II metabolism with UDP-glucuronosyltransferases (UGTs). UGT function is the transformation...