64 Corbex et al. Genetic Epidemiology 19:64–80 (2000) GEPI 9868 © 2000 Wiley-Liss, Inc. Extensive Association Analysis Between the CETP Gene and Coronary Heart Disease Phenotypes Reveals Several Putative Functional Polymorphisms and Gene-Environment Interaction Marilys Corbex, 1 * Odette Poirier, 1 Frédéric Fumeron, 2 Dina Betoulle, 2 Alun Evans, 3 Jean Bernard Ruidavets, 4 Dominique Arveiler, 5 Gerald Luc, 6 Laurence Tiret, 1 and François Cambien 1 1 INSERM U525, Paris, France 2 INSERM U286, Paris, France 3 MONICA Project, Belfast, Northern Ireland, United Kingdom 4 MONICA Project, Haute-Garonne, Toulouse, France 5 MONICA Project, Bas-Rhin, Strasbourg, France 6 MONICA Project, Lille, France An extensive association analysis of a candidate gene for coronary heart disease, Cholesteryl Ester Transfer Protein (CETP) gene, was performed. Ten polymor- phisms, out of which three were newly identified in regulatory regions, were investigated for association with myocardial infarction (MI) and 2 MI endo- phenotypes (CETP mass and HDL-cholesterol level) in 568 MI patients and 668 controls. The polymorphisms affecting codon 405 (Ile 405 Val) and the nucleotide 524 downstream from the stop codon (G +524 T) were almost completely concor- dant and associated with plasma CETP mass (P < 0.001). The polymorphisms –629 (located in promoter), intron1 (Taq1B) and intron7 were almost completely concordant and associated with plasma CETP mass (P < 0.0001) and HDL-cho- Contract grant sponsor: Squibb Laboratory; Contract grant sponsor: Sanofi-Winthrop Laboratory; Con- tract grant sponsor: British Heart Foundation; Contract grant sponsor: INSERM; Contract grant spon- sor: “Institut Pasteur-Lille”; Contract grant sponsor: “Groupement de Recherches et d’Etudes sur les Génomes (GREG)”; Contract grant sponsor: “Caisse Nationale d’Assurance Maladie des Travailleurs Salariés.” *Correspondence to: Dr. Marilys Corbex, INSERM U525, 17 rue du Fer à Moulin, 75005 Paris, France. E-mail: mcorbex@infobiogen.fr Received for publication 26 October 1998; revision accepted 28 June 1999