BACKGROUND/AIMS: Polymorphism of the endothelial nitric oxide synthase (ecNOS) gene may be involved in renal disease. Recently, T(-786)-->C polymorphism affecting ecNOS gene transcription has been reported. To clarify the role of T(-786)-->C polymorphism in renal disease, we investigated hemodialysis patients and healthy controls for this polymorphism and we compared its frequency with that of intron 4 polymorphism in the hemodialysis patients. METHODS: The subjects were 252 patients who had been on hemodialysis for less than 2 years (168 with nondiabetic nephropathy and 84 with diabetic nephropathy) and 187 healthy controls. T(-786)-->C polymorphism was detected using polymerase chain reaction-restriction fragment length polymorphism analysis. RESULTS: The frequencies of the T/C and C/C genotypes were significantly higher in the nondiabetic hemodialysis patients than in the controls (odds ratio 1.41; 95% Cl 1.03-2.00), and were also significantly higher in the diabetic hemodialysis patients than in the controls (odds ratio 1.56; 95% Cl 1.02-2.41). In addition, T(-786)-->C polymorphism and intron 4 polymorphism showed strong linkage disequilibrium. CONCLUSION: T(-786)-->C polymorphism may be involved in the progression of both nondiabetic and diabetic nephropathy, along with intron 4 polymorphism. Copyright 2002 S. Karger AG, Basel
BACKGROUND/AIMS: Polymorphism of the endothelial nitric oxide synthase (ecNOS) gene may be involved in renal disease. Recently, T(-786)-->C polymorphism affecting ecNOS gene transcription has been reported. To clarify the role of T(-786)-->C polymorphism in renal disease, we investigated hemodialysis patients and healthy controls for this polymorphism and we compared its frequency with that of intron 4 polymorphism in the hemodialysis patients. METHODS: The subjects were 252 patients who had been on hemodialysis for less than 2 years (168 with nondiabetic nephropathy and 84 with diabetic nephropathy) and 187 healthy controls. T(-786)-->C polymorphism was detected using polymerase chain reaction-restriction fragment length polymorphism analysis. RESULTS: The frequencies of the T/C and C/C genotypes were significantly higher in the nondiabetic hemodialysispatients than in the controls (odds ratio 1.41; 95% Cl 1.03-2.00), and were also significantly higher in the diabetic hemodialysispatients than in the controls (odds ratio 1.56; 95% Cl 1.02-2.41). In addition, T(-786)-->C polymorphism and intron 4 polymorphism showed strong linkage disequilibrium. CONCLUSION: T(-786)-->C polymorphism may be involved in the progression of both nondiabetic and diabetic nephropathy, along with intron 4 polymorphism. Copyright 2002 S. Karger AG, Basel
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