| Familial defective apolipoprotein B-100 in Slovakia: are differences in prevalence of familial defective apolipoprotein B-100 explained by ethnicity? | |
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MedLine Citation:
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PMID: 17194460 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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The objective of this study was to examine frequency of familial defective apo-B-100 (FDB, R3500Q mutation) in probands with the phenotype of familial hypercholesterolemia (FH) and in the general population of 40-year-old subjects in Slovakia and to characterize their lipid and clinical criteria and to compare the frequency of FDB with other populations. We identified 35 patients with FDB among 362 probands with clinical diagnosis of FH and two cases of FDB in the 40-year-old cohort of 2323 subjects from general Slovak population. Probands with FDB differed from those with FH only in plasma triglyceride concentrations (1.84+/-1.4 mmol/l versus 1.45+/-0.98 mmol/l, respectively, p<0.01). Evaluation of personal history of premature atherosclerosis did not show any differences (11.4% in FDB versus 20% in FH, p<0.16). The FDB patients had similar manifestation of xanthomatosis as the FH patients (17.1% versus 8.25%, p<0.25). The frequency of FDB of 9.7% found in the FH patients is among the highest of those reported to date. The frequency of R3500Q mutation of 0.09% found in Slovak 40-year-old subjects did not differ significantly from published population molecular data. Our comparison of estimated FDB frequencies with those which were found by DNA analysis demonstrated that estimated frequencies were not only wider in range, but also significantly higher than those which were assessed by the analysis. The definitive answer to the prevalence of FDB and its biochemical and clinical characteristics requires screening of unbiased samples of the general population from different ethnic groups based on molecular genetic methods. |
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Authors:
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Juraj Gasparovic; Zuzana Basistová; L'ubomíra Fábryová; Ladislava Wsólová; Branislav Vohnout; Katarína Raslová; |
Publication Detail:
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Type: Journal Article Date: 2006-12-27 |
Journal Detail:
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Title: Atherosclerosis Volume: 194 ISSN: 1879-1484 ISO Abbreviation: Atherosclerosis Publication Date: 2007 Oct |
Date Detail:
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Created Date: 2007-10-09 Completed Date: 2007-12-27 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 0242543 Medline TA: Atherosclerosis Country: Ireland |
Other Details:
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Languages: eng Pagination: e95-107 Citation Subset: IM |
Affiliation:
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Slovak Medical University, Limbová 12, Bratislava 833 03, Slovakia. med.ped@szu.sk |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adult Apolipoprotein B-100 / genetics* Cholesterol, LDL / blood Female Gene Frequency Humans Hyperlipoproteinemia Type II / epidemiology, genetics* Incidence Male Pedigree Phenotype Polymorphism, Single Nucleotide / genetics* Slovakia / epidemiology |
| Chemical | |
Reg. No./Substance:
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0/Apolipoprotein B-100; 0/Cholesterol, LDL |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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