Clinical Chemistry
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Clinical Chemistry 48: 2066-2070, 2002;
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(Clinical Chemistry. 2002;48:2066-2070.)
© 2002 American Association for Clinical Chemistry, Inc.

Case Report

Lack of Association between Increased Carotid Intima-Media Thickening and Decreased HDL-Cholesterol in a Family with a Novel ABCA1 Variant, G2265T

Seung Ho Hong1,1, Ward Riley2, Jeffrey Rhyne1, Gina Friel1 and Michael Miller1a

1 Department of Medicine, University of Maryland and Veterans Administration Medical Center, Baltimore, MD 21201.

2 Department of Neurology, Wake Forest University School of Medicine, Winston-Salem, NC 27104.

aAddress correspondence to this author at: Department of Medicine, University of Maryland, 22 S. Greene St., S3B06, Baltimore, MD 21201. Fax 410-328-4382; e-mail mmiller{at}heart.umaryland.edu.

Low HDL-cholesterol (HDL-C) concentrations are inversely correlated with cardiovascular disease, and previous studies have demonstrated that variants in the ATP-binding cassette transporter, ABCA1, are responsible for a proportion of HDL-C deficiency states. We identified a novel variant in ABCA1 in a kindred with decreased HDL-C. This variant was not identified in >200 chromosomes of healthy individuals. The proband, a heterozygote for G2265T, developed premature coronary artery disease. In addition to low HDL-C, six biological family members heterozygous for the ABCA1 variant exhibited low HDL-C concentrations compared with unaffected family members (0.83 ± 0.32 vs 1.33 ± 0.36 mmol/L; P = 0.009). Despite the decreased HDL-C, carotid artery B-mode ultrasound studies failed to reveal increased intima-media thickening in affected individuals compared with age- and sex-matched controls. Although these data extend previous observations that a single defective ABCA1 allele may lead to decreased HDL-C, associated evidence of early atherosclerosis was not confirmed.




The following articles in journals at HighWire Press have cited this article:


Home page
 Circ. Res.Home page
S. Ho Hong, J. Rhyne, and M. Miller
Novel Polypyrimidine Variation (IVS46: del T -39...-46) in ABCA1 Causes Exon Skipping and Contributes to HDL Cholesterol Deficiency in a Family With Premature Coronary Disease
Circ. Res., November 14, 2003; 93(10): 1006 - 1012.
[Abstract] [Full Text] [PDF]

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 Arterioscler. Thromb. Vasc. Bio.Home page
R. R. Singaraja, L. R. Brunham, H. Visscher, J. J.P. Kastelein, and M. R. Hayden
Efflux and Atherosclerosis: The Clinical and Biochemical Impact of Variations in the ABCA1 Gene
Arterioscler Thromb Vasc Biol, August 1, 2003; 23(8): 1322 - 1332.
[Abstract] [Full Text] [PDF]


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