Abstract

Objectives The relationship between endothelial nitric oxide synthase (eNOS), methylenetetrahydrofolate reductase ( MTHFR) gene polymorphisms and cardiovascular disease (CVD) in Tunisian patients with chronic renal disease (CRD) has not been examined. We investigated (a) the relationship of these gene polymorphisms with the presence and the severity of renal disease, and (b) their relationships with CVD in these patients. Design and methods We used PCR-RFLP analysis to detect the eNOS G894T, MTHFR C677T and A1298C variants in 100 patients with CRD and in 120 healthy controls. Results MTHFR C677T and A1298C polymorphisms were not associated with the presence of renal disease. However, we found that eNOS G894T polymorphism was associated with the presence and severity of renal disease and with CVD in CRD patients ( P = 0.028, P = 0.018, P = 0.016 respectively). We showed that 894T allele was an independent risk factor of severity of renal disease and the incidence of CVD ( P = 0.01 and P < 0.01 respectively). Conclusion The G894T polymorphism of the eNOS gene is associated with severity of renal disease. Presence of the 894T allele aggravated renal damage and increased the incidence of CVD in Tunisian CRD patients.

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