علوم - دكتوراة

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    The Role of Methylene Tetrahydrofolate Reductase Gene Polymorphisms (C677T & A1298C) in Sudanese Patients with Cardiac Syndrome X
    (Al Neelain University, 2015) Nasir Abdelrafie Hamad Elamin
    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.