The C677T methylenetetrahydrofolate reductase gene mutation does not influence cardiovascular risk in the dialysis population: results of a multicentre prospective study

Background. Although the methylenetetrahydrofolate reductase (MTHFR) C677T gene polymorphism has been identified as an independent cardiovascular risk factor (CRF) in the general population and among uraemic subjects, the validity of this association remains controversial. Methods. To verify this hypothesis, we enrolled all subjects on maintenance dialysis treatment from a specific Italian district. We also enrolled, from the same area, 1307 subject to serve as controls. Genomic DNA was obtained and MTHFR C677T gene polymorphisms were determined. After a baseline evaluation, patients were followed-up for 37 13 months, and all cardiovascular events and causes of mortality were recorded. Results. A total or 461 patients (417 on haemodialysis and 44 on peritoneal dialysis) were investigated, and these included patients with and without cardiovascular diseases at baseline. At enrolment, mean age was 58.8+/-15.6 years and dialytic age was 82+/-69 months. Genotype frequencies were not different between controls and uraemics. During the follow-up., the mean mortality rate was 8.81%/year, with cardiovascular events as the most frequent cause of death (n=68, 56.6%). There was no relationship between the MTHFR genotype and cardiovascular morbidity, overall mortality or cardiovascular mortality. Conclusions. In end-stage renal disease, MTHFR C677T polymorphisms were not associated with cardiovascular disease or mortality.