| Mutations in APOA-I and ABCA1 in Norwegians with low levels of HDL cholesterol. | |
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MedLine Citation:
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PMID: 20800056 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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BACKGROUND: Epidemiological studies have shown that low levels of plasma high density lipoprotein (HDL) cholesterol are associated with increased risk of ischemic heart disease (IHD), but it appears that genetic forms of low HDL cholesterol levels, as opposed to lifestyle-induced low levels of HDL cholesterol, do not result in increased risk of IHD. Therefore, the etiology of reduced levels of plasma HDL cholesterol may represent a factor that should be considered in risk stratification with respect to primary prevention. Genes encoding proteins involved in HDL metabolism, such as the ATP-binding cassette transporter A1 (ABCA1) and apolipoprotein (apo) A-I genes, are candidate genes for harboring mutations that lead to low HDL cholesterol levels. METHODS: The ABCA1 and apoA-I genes in 56 Norwegian patients, with a mean HDL cholesterol level of 0.53 (±0.15) mmol/l, were subjected to DNA sequencing. RESULTS: Several mutations were identified in the ABCA1 gene, and two mutations were identified in the apoA-I gene. A total of 18 patients (32%) were carriers of mutations considered to be pathogenic. Their mean HDL cholesterol level was 0.45 (±0.15) mmol/l compared to 0.57 (±0.14) mmol/l in noncarriers (p<0.005). CONCLUSION: Mutations in the genes encoding ABCA1 and apoA-I are common in Norwegians, with a markedly decreased HDL cholesterol level. |
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Authors:
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Knut Erik Berge; Trond P Leren |
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Publication Detail:
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Type: Journal Article Date: 2010-08-25 |
Journal Detail:
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Title: Clinica chimica acta; international journal of clinical chemistry Volume: 411 ISSN: 1873-3492 ISO Abbreviation: Clin. Chim. Acta Publication Date: 2010 Dec |
Date Detail:
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Created Date: 2010-10-11 Completed Date: 2011-01-19 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 1302422 Medline TA: Clin Chim Acta Country: Netherlands |
Other Details:
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Languages: eng Pagination: 2019-23 Citation Subset: IM |
Copyright Information:
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Copyright © 2010 Elsevier B.V. All rights reserved. |
Affiliation:
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Medical Genetics Laboratory, Department of Medical Genetics, Oslo University Hospital, Rikshospitalet, Norway. knut.erik.berge@rikshospitalet.no |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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ATP-Binding Cassette Transporters
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genetics* Adult Apolipoprotein A-I / genetics* Cholesterol, HDL / blood*, genetics Codon, Nonsense DNA Mutational Analysis European Continental Ancestry Group / genetics* Female Heterozygote Humans Male Mutation* Mutation, Missense Myocardial Ischemia / genetics Norway Pedigree RNA Splice Sites / genetics |
| Chemical | |
Reg. No./Substance:
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0/ATP binding cassette transporter 1; 0/ATP-Binding Cassette Transporters; 0/Apolipoprotein A-I; 0/Cholesterol, HDL; 0/Codon, Nonsense; 0/RNA Splice Sites |
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