Title of article :
Prevalence of Methylenetetrahydrofolate Gene (MTHFR C677T) Polymorphism Among Chronic Hemodialysis Patients and its Association with Cardiovascular Disease: A Cross-Sectional Analysis
Author/Authors :
IBRAHIM, SALWA Cairo University - Faculty of Medicine - Departments of Internal Medicine, Egypt , EL-DESSOKIY, OLA Cairo University - Cairo University Hospitals - Department of Clinical Pathology, Egypt
Abstract :
Introduction: Cardiovascular disease (CVD) remains the main cause of morbidity and mortality in end stage renal disease (ESDR) patients. A common C-T mutation at nucleotide position 677 (C677T) has been identified in the gene coding for methylenetetrahydrofolate reductase (MTHFR), which is involved in the remethylation of homocysteine (Hey). The C677T mutation decreases MTHFR activity, tends to increase Hey concentrations in individuals who are homozygous for the T/T genotype and may predispose to CVD. Recent reports suggested that TT genotype may predispose type 2 diabetic and hypertensive patients to the development of progressive renal insufficiency. The aim of this cross sectional study is to analyse the prevalence of MTHFR C677T gene polymor- phism among a group of chronic dialysis patients in comparison to age and gender matched controls. We also examined any possible association between CVD and MTHFR gene mutation in this group of patients. Patients and Methods: Fifty chronic hemodialysis patients were included in the study. They were 29 males and 21 females with mean age of 41.57±11.76 years. Three patients (6%) were diabetic (type 2). Mean duration of dialysis was 6.4±3.2 years (range 1-15 years). CVD was defined as present if there was a medical history of coronary artery disease, cerebrovas- cular stroke or transient ischemic attacks. MTHFR C677T gene polymorphism was analyzed by polymerase chain reaction (PCR) technique to discriminate between homozygous (C/C and T/T) and the heterozygous (C/T) genotypes. We also measured serum Vitamin B12 , folate, total plasma Hey (tHcy), lipid profile and serum albumin concentrations in the study group. Thirty healthy subjects (16 males and 14 females with mean age of 37.42±7.63 years) served as healthy controls. Results: 13 patients (26%) experienced at least one car- diovascular event: 2 (4%) had history of ischemic cerebrovas- cular disease, 13 (26%) had coronary artery disease and one patient (2%) had history of myocardial infarction. The C677T mutation of MTHFR was not found to be different in hemo- dialysis patients from healthy controls. 30 dialysis patients (60%) and 19 healthy subjects (63.33%) had the wild-type allele (CC), 16 dialysis patients (32%) and 9 healthy controls (30%) had one T allele (CT) and 4 dialysis patients (8%) and 2 healthy controls (6.67%) had 2 copies (TT) of the allele. There were no differences between patients with the three different MTHFR genotypes (CC/CT/TT) regarding cardio- vascular events or cardiovascular risk factors. Age, gender, percentage of diabetics and hypertensive patients, serum folate, vitamin B12, lipid profile and tHcy levels were not significantly different between the three groups (p 0.05). Hemodialysis patients with cardiovascular disease were sigcoding nificantly older compared to those without cardiovascular disease (p=0.02). Diabetes status was significantly associated . The with cardiovascular events (p=0.01). Conclusions: In our studied dialysis population, MTHFR reports C677T gene polymorphism was represented in pattern similar to age and gender matched healthy controls. No significant association was detected between TT genotype and cardiovasy is cular disease in dialysis patients. Plasma total homocysteine -levels was not affected by mutation of gene coding for MTHFR, and that might be explained by normal serum folate and Vit B12 levels in the study group.
Keywords :
Methylenetetrahydrofolate reductase gene polymorphism , Hemodialysis , Cardiovascular disease , Hyperhomocysteinemia
Journal title :
The Medical Journal of Cairo University
Journal title :
The Medical Journal of Cairo University