Items for "familial hypercholesterolemia"

Familial hypercholesterolemia and response to statin therapy according to LDLR genetic background

Familial hypercholesterolemia is an autosomal dominant disease defined at the molecular level mainly by the presence of mutations in the low-density lipoprotein receptor gene and is characterized by elevated low-density lipoprotein cholesterol, tendon xanthomas and increased risk of early cardiovascular disease...

Keywords: cholesterol, familial hypercholesterolemia, HMG-CoA, low-density lipoprotein receptor (LDL-R), statins, therapy

Association between the TaqIB polymorphism in the cholesteryl ester transfer protein gene locus and postprandial plasma lipoprotein levels in heterozygotes for familial hypercholesterolemia

Background: We examined the influence of cholesteryl ester transfer protein TaqIB polymorphism on triglyceride (TG) response to an oral fat tolerance test (OFTT) in patients heterozygous for familial hypercholesterolemia (hFH).

Methods: We genotyped 67 hFH patients (32 men and 35 postmenopausal women) who were subjected to an OFTT.

Results: All B1 allele carriers had lower high-density lipoprotein cholesterol (HDL-C) levels (p=0.013) and higher postprandial TG response at 6 and 8 h (p=0.05 and p=0.04, respectively) compared to B2 allele carriers...

Keywords: atherosclerosis, cholesteryl ester transfer protein, familial hypercholesterolemia, high-density lipoprotein cholesterol, postprandial hypertriglyceridemia, TaqIB polymorphism