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Human Molecular Genetics Advance Access originally published online on July 27, 2005
Human Molecular Genetics 2005 14(18):2607-2618; doi:10.1093/hmg/ddi291
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© The Author 2005. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oupjournals.org

Functional interaction between –629C/A, –971G/A and –1337C/T polymorphisms in the CETP gene is a major determinant of promoter activity and plasma CETP concentration in the REGRESS Study

Eric Frisdal1, Anke H.E.M. Klerkx2, Wilfried Le Goff1, Michael W.T. Tanck3, Jean-Pierre Lagarde1, J. Wouter Jukema4,5, John J.P. Kastelein2, M. John Chapman1 and Maryse Guerin1,*

1Institut National de la Santé et de la Recherche Médicale, INSERM Unité 551, Dyslipoproteinemia and Atherosclerosis, Paris Cedex, France, 2Department of Vascular Medicine and 3Department of Clinical Epidemiology and Biostatistics, AMC, Amsterdam, The Netherlands, 4Department of Cardiology, LUMC, Leiden and 5Interuniversity Cardiology Institute of the Netherlands, Utrecht, The Netherlands

* To whom correspondence should be addressed at: INSERM Unité 551, Hôpital de la Pitié, Pavillon Benjamin Delessert, 83, boulevard de l'Hôpital, 75651 Paris Cedex 13, France. Tel: +33 142177977; Fax: +33 145828198; Email: mguerin{at}chups.jussieu.fr

Received June 2, 2005; Revised July 12, 2005; Accepted July 20, 2005

Cholesteryl ester transfer protein (CETP) plays a key role in the determination of high-density lipoprotein (HDL) levels via its action on intravascular HDL metabolism. The TaqIB polymorphism of the CETP gene is associated with plasma CETP and high-density lipoprotein cholesterol (HDL-C) levels and with premature coronary artery disease. Such associations appear to result from linkage disequilibrium between TaqIB and other functional polymorphisms. To date, only one functional promoter variant, which may explain the effects of TaqIB, has been identified at position –629 in the CETP gene. Here we describe a C/T polymorphism located at position –1337 in the human CETP gene (C allele frequency: 0.684), which is significantly associated with plasma HDL-C and CETP levels (P=0.0001 and P<0.0001, respectively). Transient transfection of a reporter gene construct containing the CETP promoter from –1707/+28 in liver cells (HepG2) revealed that the –1337T allele was expressed to a significantly lower degree (–34%, P<0.0001) than the –1337C allele. In addition, we clearly demonstrated that the –971G/A polymorphism is functional and that its functionality is intimately linked to the presence of the –1337 site. In vitro evaluation of potential interaction between –1337C/T and other functional variants of the CETP gene (–971G/A and –629C/A) demonstrated that these three functional CETP promoter polymorphisms can interact together to determine the overall activity of the CETP gene and thus contribute significantly to variation in plasma CETP mass concentration.


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