| The two novel CETP mutations Gln87X and Gln165X in a compound heterozygous state are associated with marked hyperalphalipoproteinemia and absence of significant coronary artery disease. | |
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MedLine Citation:
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PMID: 16855848 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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High levels of high-density lipoprotein cholesterol (HDL-C) occur with cholesteryl ester transfer protein (CETP) deficiency. However, the extent to which CETP deficiency states may be associated with protection against coronary artery disease (CAD) has been controversial. We evaluated a Greek pedigree with high levels of HDL-C and no history of premature CAD. The proband, a 45-year-old male with an HDL-C of 194 mg/dl with absent CETP activity, was heterozygous for two novel CETP mutations (Q87X and Q165X). A 64-slice multidetector CT scan revealed minimal (<10%) narrowing of the proximal left anterior descending artery without any other evidence of coronary atherosclerosis. In contrast to previous studies, these data suggest that complete CETP deficiency does not promote premature atherosclerosis. However, it remains unclear as to whether the relative lack of coronary atherosclerosis was the direct consequence of CETP deficiency and/or the lack of traditional CAD risk factors. |
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Authors:
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Jeffrey Rhyne; Michael J Ryan; Charles White; Theodore Chimonas; Michael Miller |
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Publication Detail:
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Type: Journal Article Date: 2006-07-20 |
Journal Detail:
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Title: Journal of molecular medicine (Berlin, Germany) Volume: 84 ISSN: 0946-2716 ISO Abbreviation: J. Mol. Med. Publication Date: 2006 Aug |
Date Detail:
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Created Date: 2006-07-28 Completed Date: 2007-01-26 Revised Date: 2011-07-08 |
Medline Journal Info:
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Nlm Unique ID: 9504370 Medline TA: J Mol Med (Berl) Country: Germany |
Other Details:
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Languages: eng Pagination: 647-50 Citation Subset: IM |
Affiliation:
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University of Maryland and Veterans Affairs Medical Center, Baltimore, MD, USA. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Adult Aged Aged, 80 and over Apolipoprotein A-I / blood Cholesterol Ester Transfer Proteins / genetics* Coronary Artery Disease / genetics*, pathology, radiography Coronary Vessels / pathology Female Heterozygote Humans Hyperlipoproteinemias / blood, genetics*, pathology Lipoproteins, HDL / blood* Lipoproteins, LDL / blood Male Middle Aged Mutation Myocardium / pathology Pedigree Tomography, X-Ray Computed Triglycerides / blood |
| Chemical | |
Reg. No./Substance:
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0/Apolipoprotein A-I; 0/CETP protein, human; 0/Cholesterol Ester Transfer Proteins; 0/Lipoproteins, HDL; 0/Lipoproteins, LDL; 0/Triglycerides |
| Comments/Corrections | |
Comment In:
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J Mol Med (Berl). 2006 Aug;84(8):625-7
[PMID:
16855847
]
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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