title: Hyperhomocysteinemia and polymorphisms of the methylenetetrahydrofolate gene in hemodialysis and peritoneal dialysis patients.
abstract: Hyperhomocysteinemia has been documented in chronic renal failure (CRF). Premature as well as progressive occlusive vascular disease is common. Mutations or polymorphisms in the gene of the enzyme methylenetetrahydrofolate reductase (MTHFR), as C677T, A1298C and G1793A, are associated with hyperhomocysteinemia and possibly with elevated risk for vascular diseases. This study was conducted on 89 individuals with renal failure on dialysis to determine the allelic and genotypic frequencies of the mutations in the MTHFR gene and hyperhomocysteinemia. Blood samples were colleted for determination of homocysteine and DNA. The C677T, A1298C and G1793A mutations were detected. This study confirmed the high prevalence of hyperhomocysteinemia in patients on dialysis, which was diagnosed in 76 patients (85.39%) and high incidence of the C677T and A1298C mutation, 42 (47.19%) and 29 (32.58%) patients, respectively. Five patients (5.62%) presented the G1793A mutation and hyperhomocysteinemia. The authors concluded that there was no influence of the polymorphisms on homocysteine levels in these patients.
authors.affiliation: Nutrition Division, University of Medicine of Ribeirão Preto, University of São Paulo, Ribeirão Preto, Brazil.
authors.forename: Fernanda Aparecida
authors.initials: FA
authors.lastname: Domenici
authors.forename: Maria T I
authors.initials: MT
authors.lastname: Vannucchi
authors.forename: Livia M C
authors.initials: LM
authors.lastname: Simões-Ambrósio
authors.forename: Helio
authors.initials: H
authors.lastname: Vannucchi
mesh_terms: D000328:Adult; D000368:Aged; D004247:DNA / Q000097:blood / Q000737:chemistry; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D020138:Hyperhomocysteinemia / Q000150:complications / Q000235:genetics*; D007676:Kidney Failure, Chronic / Q000150:complications; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D010530:Peritoneal Dialysis; D006435:Renal Dialysis
chemical_list: D004247:DNA; D042965:Methylenetetrahydrofolate Reductase (NADPH2)