2008 Barcelona - European Society of Human Genetics

Molecular and biochemical basis of disease
P06.065
Frequency, significance and association of ACE I/D and MTHFR
c677t gene polymorhisms in turkish patients with early onset
coronary artery disease
K. Ulucan 1 , H. S. Ozturhan 2 , D. Sevinc 3 , D. Agirbasli 4 , D. Kırac 5 , D. Javadova 6 ,
M. Agırbaslı 2 , A. I. Guney 6 ;
1 Department of Medical Biology and Genetics, Faculty of Dentistry, Marmara
University, Istanbul, Turkey, 2 Department of Cardiology, Faculty of Medicine,
Marmara University, Istanbul, Turkey, 3 Department of Medical Biology and Genetics,
Faculty of Medicine, Maltepe University, Istanbul, Turkey, 4 Department
of Medical Biology, Faculty of Medicine, Marmara University, Istanbul, Turkey,
5 Department of Biochemistry, Faculty of Medicine, Yeditepe University, Istanbul,
Turkey, 6 Department of Medical Genetics, Faculty of Medicine, Marmara University,
Istanbul, Turkey.
Introduction: Coronary artery disease (CAD) is a polygenic disease . A
number of polymorhisms, including the insertion (I) or deletion (D) of a
287 bp Alu repeat sequence polymorhism of angiotensin I converting
enzyme (ACE) gene and a point mutation (C677T) of 5,10-methylenetetrahydrofolate
reductase (MTHFR) gene have been implicated in the
pathogenesis of CAD . We investigated ACE and MTHFR genotypes
in patients with angiographically documented CAD in Turkish population
.
Methods: 184 patients (aged between 23-72, mean 45 ± 7 .5 years)
were included in the study . DNAs from 89 patients with angiographically
proven CAD (age