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@article{988813,
author = {Tichý, Lukáš and Freiberger, Tomáš and Zapletalová, Petra and Soška, Vladimír and Ravčuková, Barbora and Fajkusová, Lenka},
article_number = {2},
doi = {http://dx.doi.org/10.1016/j.atherosclerosis.2012.05.014},
keywords = {Familial hypercholesterolemia; LDLR; APOB; LDL cholesterol; Lipid profile},
language = {eng},
issn = {0021-9150},
journal = {Atherosclerosis},
title = {The molecular basis of familial hypercholesterolemia in the Czech Republic: Spectrum of LDLR mutations and genotype-phenotype correlations},
url = {http://www.sciencedirect.com/science/article/pii/S002191501200322X},
volume = {223},
year = {2012}
}
TY - JOUR
ID - 988813
AU - Tichý, Lukáš - Freiberger, Tomáš - Zapletalová, Petra - Soška, Vladimír - Ravčuková, Barbora - Fajkusová, Lenka
PY - 2012
TI - The molecular basis of familial hypercholesterolemia in the Czech Republic: Spectrum of LDLR mutations and genotype-phenotype correlations
JF - Atherosclerosis
VL - 223
IS - 2
SP - 401-408
EP - 401-408
PB - ELSEVIER IRELAND LTD
SN - 00219150
KW - Familial hypercholesterolemia
KW - LDLR
KW - APOB
KW - LDL cholesterol
KW - Lipid profile
UR - http://www.sciencedirect.com/science/article/pii/S002191501200322X
L2 - http://www.sciencedirect.com/science/article/pii/S002191501200322X
N2 - Familial hypercholesterolemia (FH), a major risk for coronary heart disease, is predominantly associated with mutations in the genes encoding the low-density lipoprotein receptor (LDLR) and its ligand apolipoprotein B (APOB). Results: In this study, we characterize the spectrum of mutations causing FH in 2239 Czech probands suspected to have FH. In this set, we found 265 patients (11.8%) with the APOB mutation p.(Arg3527Gln) and 535 patients (23.9%) with a LDLR mutation. In 535 probands carrying the LDLR mutation, 127 unique allelic variants were detected: 70.1% of these variants were DNA substitutions, 16.5% small DNA rearrangements, and 13.4% large DNA rearrangements. Fifty five variants were novel, not described in other FH populations. For lipid profile analyses, FH probands were divided into groups [patients with the LDLR mutation (LDLR+), with the APOB mutation (APOB+), and without a detected mutation (LDLR-/APOB-)], and each group into subgroups according to gender. The statistical analysis of lipid profiles was performed in 1722 probands adjusted for age in which biochemical data were obtained without FH treatment (480 LDLR+ patients, 222 APOB+ patients, and 1020 LDLR-/APOB- patients). Significant gradients in i) total cholesterol (LDLR+ patients > APOB+ patients 1/4 LDLR-/APOB- patients) ii) LDL cholesterol (LDLR+ patients > APOB+ patients 1/4 LDLR-/APOB- patients in men and LDLR+ patients > APOB+ patients >LDLR-/APOB- patients in women), iii) triglycerides (LDLR-/APOB- patients > LDLR+ patients > APOB+ patients), and iv) HDL cholesterol (APOB+ patients > LDLR-/APOB- patients 1/4 LDLR+ patients) were shown. Conclusion: Our study presents a large set of Czech patients with FH diagnosis in which DNA diagnostics was performed and which allowed statistical analysis of clinical and biochemical data.
ER -
TICHÝ, Lukáš, Tomáš FREIBERGER, Petra ZAPLETALOVÁ, Vladimír SOŠKA, Barbora RAVČUKOVÁ and Lenka FAJKUSOVÁ. The molecular basis of familial hypercholesterolemia in the Czech Republic: Spectrum of LDLR mutations and genotype-phenotype correlations. \textit{Atherosclerosis}. ELSEVIER IRELAND LTD, 2012, vol.~223, No~2, p.~401-408. ISSN~0021-9150. doi:10.1016/j.atherosclerosis.2012.05.014.
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