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

By Natalie Maria Pecheniuk, Hiroshi Deguchi, Darlene Elias, Xiao Xu and John Griffin

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

Topics: 110299 Cardiovascular Medicine and Haematology not elsewhere classified, 110311 Medical Genetics (excl. Cancer Genetics), venous thrombosis, cholesteryl ester transfer protein
Publisher: Blackwell Publishing
Year: 2006
DOI identifier: 10.1111/j.1538-7836.2006.02099.x
OAI identifier: oai:eprints.qut.edu.au:43490

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