Cholesteryl ester transfer protein genotypes associated with venous thrombosis and dyslipoproteinemia in males

Pecheniuk, N. M., Deguchi, H., Elias, D. J., Xu, X., and Griffin, J. H. (2006) Cholesteryl ester transfer protein genotypes associated with venous thrombosis and dyslipoproteinemia in males. Journal of Thrombosis and Haemostasis, 4 (9). pp. 2080-2082.

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Abstract

Although numerous genetic and acquired factors are appreciated as risk factors for venous thromboembolism (VTE) [1,2], only recently have male gender [3,4], dyslipoproteinemia [5], and silent atherosclerotic vascular disease [6] been linked to VTE. We recently found that high-density lipoprotein (HDL) deficiency is a key feature of a pattern of dyslipoproteinemia that is associated with VTE in males, and we found that the common TaqI B1 variation in the cholesteryl ester transfer protein (CETP) gene is significantly linked to VTE [5]. However, the TaqI B1/B2 single nucleotide polymorphism (SNP) itself is unlikely to affect directly CETP activity, but it is linked to nonsynonymous CETP SNPs Ala373Pro and Arg451Gln [7–9]. Here, we demonstrate that these two CETP variations are associated with VTE and low plasma HDL levels in males.

Item ID: 8299
Item Type: Article (Research - C1)
ISSN: 1538-7933
Keywords: men; risk; CETP; thromboembolism; disease
Funders: NIH, Skaggs Clincal Scholars Program at The Scripps Research Institute
Date Deposited: 30 Mar 2010 01:30
FoR Codes: 11 MEDICAL AND HEALTH SCIENCES > 1102 Cardiovascular Medicine and Haematology > 110299 Cardiovascular Medicine and Haematology not elsewhere classified @ 100%
SEO Codes: 92 HEALTH > 9201 Clinical Health (Organs, Diseases and Abnormal Conditions) > 920101 Blood Disorders @ 5%
92 HEALTH > 9201 Clinical Health (Organs, Diseases and Abnormal Conditions) > 920103 Cardiovascular System and Diseases @ 95%
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