Prevalence in a Tunisian Arabic population of factor VII DNA variants and relation to factor VII plasma levels Mohamed Nour a, * , Foued Belhaj Slama b , Kamel Monastiri c , Mohamed Hammami a , Ahmed Noureddine Helal d a Faculty of Medicine, 99-UR/08-39, Monastir, Tunisia b Laboratory of Immunology, Faculty of Medicine, Sousse, Tunisia c Faculty of Medicine, 01-UR/08-14, Monastir, Tunisia d Institute of Biotechnology, 03-UR/09-01, Monastir, Tunisia Received 10 June 2004; received in revised form 24 June 2004; accepted 24 June 2004 Abstract Background: A raised plasma factor VII (FVII) level is a risk factor for coronary heart disease. DNA variants have been described to be associated with alteration in FVII levels. The prevalence of FVII polymorphisms is unknown in the Tunisian Arab population. Methods: In a group of 240 healthy Tunisians, we examined the relationship between levels of FVII coagulant activity (FVIIc) and two polymorphisms in the FVII gene. One polymorphism alters arginine at position 353 to glutamine (R/Q) and the other is a 10 base pair insertion (0/10 bp). Results: The FVII distribution was in accordance with the Hardy-Weinberg equilibrium. The allele frequencies of Q and 10 bp were 0.212 and 0.235, respectively. There were significant differences in these allelic frequencies between Tunisian and other populations ( p b0.001). We observed lower FVIIc levels among subjects with the Q allele compared to RR subjects (RR: 98.17%, RQ/QQ: 57.41%, p b0.0001). For the 0/10 polymorphism, no statistically difference was observed. Conclusion: The prevalence of the Q allele which was found to be associated with lower plasma FVIIc levels is high in Tunisian population. Further analyses should yield information on the protective role of carrying the Q allele for coronary heart disease. D 2004 Elsevier B.V. All rights reserved. Keywords: Vascular diseases; Factor VII; Gene; Polymorphisms; Coagulation 1. Introduction Coagulation factor VII (FVII), a glycoprotein synthesized in the liver, is secreted as a single chain polypeptide of 406 amino acids. It plays a key role in 0009-8981/$ - see front matter D 2004 Elsevier B.V. All rights reserved. doi:10.1016/j.cccn.2004.06.025 * Corresponding author. Institut Superieur de Biotechnologie de Monastir, B.P. 74, Monastir 5000, Tunisia. Tel.: +216 98 547828; fax: +216 73 505 404. E-mail address: mednour@yahoo.fr (M. Nour). Clinica Chimica Acta 349 (2004) 199 – 202 www.elsevier.com/locate/clinchim