REGULAR ARTICLE Sequence variations within the genes related to hemostatic imbalance and their impact on coronary artery disease in Turkish population Hilal Taymaz a , Serpil Erarslan b , Ebru Toksoy O ¨ ner c , Tijen Alkan d , Mehmet Ag ˘irbas Sli e ,Betu¨lKirdar a, * a Department of Chemical Engineering, Bogazici University, 34342 Bebek-Istanbul, Turkey b Duzen DNA Diagnosis Center for Genetic Disorders, Duzen Laboratories, Istanbul, Turkey c Department of Chemical Engineering, Marmara University, 80815 Goztepe-Istanbul, Turkey d Department of Cardiology and Cardiovascular Surgery, V.K.V. American Bristol Hospital, Istanbul, Turkey e Medical School Department of Cardiology, Marmara University, Istanbul, Turkey Received 29 June 2005; received in revised form 28 December 2005; accepted 29 December 2005 Available online 10 February 2006 Abstract Coronary artery disease (CAD) is reported to be associated with some genetic risk factors. Since identification of genetic risk factors for CAD in different ethnic groups is important for the development of new intervention and prevention programs, we investigated the association between the R353Q and À 323ins10 polymorphisms in Factor VII gene, C677T mutation in MTHFR, Factor V Leiden and PT G20210A mutations and CAD in Turkish population. The promoter region of the PAI-1 gene was also screened by SSCA (single-stranded conformation analysis) using specifically designed primers. 137 CAD patients with early onset documented by coronary angiography and 41 individuals who had no significant coronary stenosis by angiography as control group were screened for the identification of the poly- morphisms. In conclusion, Factor V Leiden was found to be an independent genetic risk factor for CAD in Turkish population. Combined risk assessment indicated that the coexistence of two other inherited thrombophilia markers, namely MTHFR C677T and PT G20210A with Factor V Leiden may increase the risk of the development of the disease in this population. The results of the present study show that there is no statistically significant association between the two polymorphisms in Factor VII gene, MTHFR C677T polymorphism, PT G20210A polymorphism, 4G/5G polymorphism of PAI-1 and CAD in Turkish population. D 2006 Elsevier Ltd. All rights reserved. 0049-3848/$ - see front matter D 2006 Elsevier Ltd. All rights reserved. doi:10.1016/j.thromres.2005.12.018 * Corresponding author. E-mail address: kirdar@boun.edu.tr (B. Kirdar). KEYWORDS Polymorphisms; Coagulation factors; Thrombosis; Coronary artery disease Thrombosis Research (2007) 119, 55—62 intl.elsevierhealth.com/journals/thre