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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

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 pedigr...

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Bibliographic Details
Published in:Journal of molecular medicine (Berlin, Germany) Germany), 2006-08, Vol.84 (8), p.647-650
Main Authors: LUFT, F. C, RHYNE, Jeffrey, RYAN, Michael J, WHITE, Charles, CHIMONAS, Theodore, MILLER, Michael
Format: Article
Language:English
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Summary: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 (
ISSN:0946-2716
1432-1440
DOI:10.1007/s00109-006-0070-4