The Role of Methylene Tetrahydrofolate Reductase Gene Polymorphisms (C677T & A1298C) in Sudanese Patients with Cardiac Syndrome X

Abstract

Background

Cardiac syndrome X (CSX) is defined as a typical angina

chest pain with a positive response to stress testing, and

normal coronary angiography (CAG).

CSX is associated with

increased frequency of myocardial infarction (MI), stroke,

congestive cardiac failure, and death.

Researchers investigating the role of MTHFR 677C-T and

1298A-C polymorphisms in CSX concluded that these

mutations might represent an important genetic risk factor

for the disease

.

Moreover, disturbances in magnesium

levels were associated with many cardiovascular diseases

such as ventricular tachycardia, coronary artery

calcification, hypertension, atherosclerosis, coronary spasm

and sudden cardiac arrest.

The present study aimed to evaluate the

role of MTHFR C677T, A1298C and serum magnesium in CSX in

Sudanese population and correlate them with different biochemical

parameters (FBG, blood urea and serum creatinine, magnesium, and lipid

profile).

Materials & methods

This cross-sectional study involved fifty patients with CSX and their

matching control in Khartoum State, Sudan after signing a written consent.

The study was carried out during the period from February 2011- June

2012. Data were collected from all participants using a pre-structured

interview questionnaire.

A total of 6 ml of overnight fasting

venous blood were collected in EDTA tubes of which 3 ml

were centrifuged at 2.000 rpm for 10 minutes and kept

frozen at-20C for DNA extraction and molecular analysis

.

The remaining 3 ml were used for determination of FBG, renal, liver and

lipid profile. Ethical approval was obtained from the Institutional

Committee of Al-Neelain University.

Methylene Tetrahydrofolate Reductase gene

polymorphisms C677T and A1298C was determined using

PCR amplification followed by

Hin

fI

and

MboII

restriction

enzymes. Biochemical parameters measured included

fasting blood glucose, blood urea, serum creatinine,

magnesium, and lipid profile (cholesterol, TAG, LDL, and

HDL).

Results

The present study included 50 patients with CSX, 30

females (60%), and 20 males (40%). Most patients with

CSX were originally from Central Sudan. The mean age for

patients was 44.98 year-old compared to 40.38 year-old for

the healthy control subjects. About 20% had MTHFR C677T

compared to 4% of control individuals (4%). the difference

was significant (

p

-value=0.014). The frequency of MTHFR

C677T was 20% of patients compared to 2% of the healthy

controls.

None of the examined individuals had the wildtype A1298A

allele. No significant difference were observed between the

median (25

th

-75

th

quartile) of serum magnesium in cases

and control group [2.4(1.9-2.8) vs. 2.5 (1.9-3.2) mg/dl;

p-

value= 0.150], respectively. Other biochemical parameters

(RBG, liver, renal, and lipid profile) were measured and

compared between cases and controls with no statistical

difference found.

Conclusion

The study concluded that MTHFR C677T was associated

with CSX in Sudanese population. MTHFR A1298C and

serum magnesium were not associated with CSX.