Lipid levels and their genetic regulation in patients with familial hypercholesterolemia and familial defective apolipoprotein B-100: the MEDPED Slovakia Project.
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.
Vohnout
Branislav
B
Institute of Preventive and Clinical Medicine, Limbova 14, 83301, Bratislava, Slovak Republic. vohnout@negrisud.it
Raslová
Katarína
K
Gasparovic
Juraj
J
Franeková
Jana
J
Fábryová
Lubomíra
L
Belosovicová
Martina
M
Kovác
Gustáv
G
Sebová
Claudia
C
Rajecová
Eva
E
Stavný
Jozef
J
Babjak
Miron
M
Donati
Maria B
MB
Iacoviello
Licia
L
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
D053299:Apolipoprotein B-100; D001055:Apolipoproteins B; D008055:Lipids