title: Lipid levels and their genetic regulation in patients with familial hypercholesterolemia and familial defective apolipoprotein B-100: the MEDPED Slovakia Project.
abstract: We examined, from a cohort of 165 families, 529 individuals for familial hypercholesterolemia (FH). Utilising clinical criteria for diagnosis, we identified 122 patients (n=41 families) as having FH. With PCR testing, 31 individuals (n=12 families) were found to have familial defective Apo B-100 (FDB). From the cohort, 102 normolipidemic (NL) individuals served as a control group. Patients with FH had the highest levels of total cholesterol (TC), LDL-cholesterol (LDL-C) and apolipoprotein B (Apo B), followed by FDB patients and the normolipidemic relatives had the lowest levels (P<0.0001 for all parameters). We did not find any effect of Apo E genotypes on lipid levels in the NL or FH group. Therefore, other genetic and/or environmental factors may be responsible for the diversity in the clinical expression in these populations.
authors: Institute of Preventive and Clinical Medicine, Limbova 14, 83301, Bratislava, Slovak Republic. vohnout@negrisud.it
authors: Branislav
authors: B
authors: Vohnout
authors: Katarína
authors: K
authors: Raslová
authors: Juraj
authors: J
authors: Gasparovic
authors: Jana
authors: J
authors: Franeková
authors: Lubomíra
authors: L
authors: Fábryová
authors: Martina
authors: M
authors: Belosovicová
authors: Gustáv
authors: G
authors: Kovác
authors: Claudia
authors: C
authors: Sebová
authors: Eva
authors: E
authors: Rajecová
authors: Jozef
authors: J
authors: Stavný
authors: Miron
authors: M
authors: Babjak
authors: Maria B
authors: MB
authors: Donati
authors: Licia
authors: L
authors: Iacoviello
mesh_terms: D000328:Adult; D000483:Alleles; D053299:Apolipoprotein B-100; D001055:Apolipoproteins B / Q000235:genetics*; D005260:Female; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000097:blood / Q000235:genetics*; D008055:Lipids / Q000097:blood*; D008297:Male; D011110:Polymorphism, Genetic
chemical_list: D053299:Apolipoprotein B-100; D001055:Apolipoproteins B; D008055:Lipids