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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. 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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Basic information
Original name The molecular basis of familial hypercholesterolemia in the Czech Republic: Spectrum of LDLR mutations and genotype-phenotype correlations
Authors TICHÝ, Lukáš (203 Czech Republic, guarantor, belonging to the institution), Tomáš FREIBERGER (203 Czech Republic, belonging to the institution), Petra ZAPLETALOVÁ (203 Czech Republic), Vladimír SOŠKA (203 Czech Republic, belonging to the institution), Barbora RAVČUKOVÁ (203 Czech Republic) and Lenka FAJKUSOVÁ (203 Czech Republic, belonging to the institution).
Edition Atherosclerosis, ELSEVIER IRELAND LTD, 2012, 0021-9150.
Other information
Original language English
Type of outcome Article in a journal
Field of Study 30201 Cardiac and Cardiovascular systems
Country of publisher United States of America
Confidentiality degree is not subject to a state or trade secret
WWW URL
Impact factor Impact factor: 3.706
RIV identification code RIV/00216224:14740/12:00060555
Organization unit Central European Institute of Technology
Doi http://dx.doi.org/10.1016/j.atherosclerosis.2012.05.014
UT WoS 000307239800024
Keywords in English Familial hypercholesterolemia; LDLR; APOB; LDL cholesterol; Lipid profile
Tags ok, rivok
Tags International impact
Changed by Changed by: Olga Křížová, učo 56639. Changed: 15. 4. 2013 13:42.
Abstract
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.
Links
ED1.1.00/02.0068, research and development projectName: CEITEC - central european institute of technology
2B08060, research and development projectName: Vývoj diagnostiky a léčby závažných onemocnění srdce a cév pomocí genomických a epigenomických přístupů (Acronym: EPICARD)
Investor: Ministry of Education, Youth and Sports of the CR, Development of diagnostics and treatment of serious heart and vascular diseases using genomic and proteomic approaches
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