Incidence of the genetic mutations in patients with coronary artery disease

Year 2017, Volume: 3 Issue: 2, 145 - 151, 04.07.2017

Meral Ekim , Hasan Ekim

https://doi.org/10.18621/eurj.286198

Cited By: 1

Abstract

Objectives. Coronary artery disease (CAD) is the leading cause of
mortality in the world. It is a complex disorder resulting from the interaction
between environmental risk factors and hereditary predisposition. The role of
the factor V Leiden (FVL), protrombin gene (PT G20210A) and methylenetetrahydrofolate
reductase (MTHFR) C677T polymorphisms in the development of CAD is
controversial. In this study, we investigated the incidence of these polymorphisms
in order to delineate their roles in the development of CAD in a tertiary
University hospital. Methods. This study included 58
consecutive CAD patients. Diabetic and hypertensive patients were excluded.
FVL, PT G20210A, and MTHFR (C677T, A1298C) mutations were investigated in all
patients. Polymerase chain reaction and the amplification refractory mutation
system were used to identify these polymorphisms. Results. Thirty-six men
and 22 women were enrolled with an age ranging between 41 to 85 (mean age: 62.75±9.18 years). The heterozygous PT G20210A genotype was
identified in 5 (8.6%) patients (2 males, 3 females). The heterozygous FVL
genotype was found in 8 (13.8%) patients (6 males and 2 females). The incidence
of homozygous MTHFR C677T and homozygous MTHFR A1298 carriers was found to be
17.2% and 8.6%, respectively. There were no significant differences in the
distribution of polymorphisms according to gender (p>0.05). Conclusions. The FVL and PT G20210A
polymorphisms most likely play a contributory role in the development of CAD.
In contrast, the MTHFR C677T and MTHFR A1298C genotypes were not associated
with a predisposition to the development of CAD. However, in compound MTHFR
C677T/A1298C carriers, the presence of FVL or PT G20210 polymorphism may
contribute the development of CAD. Further studies are needed to support these
findings. 

Keywords

Methylenetetrahydrofolate reductase, polymorphism, genetic mutation, atherosclerosis, coronary artery disease

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