Homocysteine, vitamin B-12, red blood cell folate, and C677T MTHFR mutation in non-diabetic dialysis patients

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2004-03-01
Autores
D'Avila, R.
Guerra, M. M.
Almeida, F. A. de
D'Almeida, Vania [UNIFESP]
Hirata, RDC
Kohlmann Junior, Osvaldo [UNIFESP]
Ribeiro, Artur Beltrame [UNIFESP]
Tavares, Agostinho [UNIFESP]
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Aim, Patients, and Methods. To analyze plasma total homocysteine (tHcy) levels and their correlation with red blood cell (RBC) folate and vitamin B-12 blood levels and C677T mutation in the methylenetetrahydrofolate reductase (MTHFR) gene in non-diabetic end-stage renal disease (ESRD) patients on dialysis (77 on hemodialysis, 47 on peritoneal dialysis).Results. Mean tHcy was 39.9 +/- 32.4 mumol/L, RBC folate was 829 +/- 446.6 ng/ml, and vitamin B-12 was 537.4 +/- 278.1 pg/ml. Sixty-one patients (49.2%) were homozygous for the normal allele (CC), 46 (37.1%) heterozygous (CT), and 17 (13.7%) homozygous for the MTHFR mutated allele (TT). RBC folate concentration was higher in 68 patients who were taking folate preparations: 1062.2 +/- 402.4 vs. 545.8 +/- 316.1 ng/ml (p < 0.0001). tHcy levels were not influenced by age, gender, or ethnic group but showed a negative correlation with RBC folate (r = -0.38, p < 0.001) and vitamin B12 (r = -0.21, p = 0.02). TT genotype patients for MTHER mutation had higher tHcy plasma levels (66.0 +/- 60.4 mumol/L) than did CT or CC patients (34.3 +/- 18.9 and 36.9 +/- 26.1 mumol/L, respectively; p < 0.01). Higher hyperhomocysteinemia in the TT group occurred specifically in men (p < 0.047 male vs. female).Conclusion. Blood tHcy levels were elevated in our ESRD patients and correlated inversely with RBC folate and Vitamin B12 levels. Hyperhomocysteinemia was more pronounced in patients with 677TT MTHFR genotype, especially in men, suggesting that the MTHFR gene mutation-associated hyperhomocysteinemia may be linked to gender in these patients.
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Dialysis & Transplantation. Van Nuys: Creative Age Publ, v. 33, n. 3, p. 126-+, 2004.
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