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- W2020068899 abstract "The purpose of this study is to observe the influence of the methylenetetrahydrofolate reductase (MTHFR) gene (677C→T substitution) on plasma homocysteine levels in end-stage renal disease (ESRD) patients who received a relatively large amount of folate (2 mg/d) and are undergoing hemodialysis. A cross-sectional study of plasma homocysteine, vitamin B12 , and folate was performed in patients with ESRD. The study population for the MTHFR gene study included 312 healthy subjects and 106 patients with ESRD undergoing hemodialysis. The C677T transition in the MTHFR gene was detected by HinF 1 restriction enzyme analysis and subsequent electrophoresis in a 3% agarose gel. The genotype of the MTHFR gene in 106 patients with ESRD was homozygous C677T mutation (VV) in 17 patients (16.1%) and heterozygous (AV) in 63 patients (58.4%); 26 patients (24.5%) did not carry this mutation (AA). The mean levels of homocysteine, vitamin B12 , and folate in the patients with ESRD were 23.3 ± 14.0 mmol/L, 620.2 ± 98.5 pmol/L, and 138.6 ± 55.6 nmol/L, respectively. There was no significant difference in homocysteine levels among the three genotypes: 28.2 ± 19.4 mmol/L for VV, 22.7 ± 14.9 mmol/L for AV, and 23.4 ± 11.1 mmol/L for AA genotype (P > 0.05). There was no difference in genotype distribution between the patient groups of less than 25th and greater than 75th percentiles, classified according to plasma homocysteine levels (P = 0.47). In conclusion, with high-dose folate supplementation, the hyperhomocysteinemia in patients with ESRD does not seem to be caused by the 677C→T mutation in the MTHFR gene." @default.
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- W2020068899 date "2007-12-01" @default.
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- W2020068899 title "Methylenetetrahydrofolate reductase and vitamin D receptor genotypes in turner syndrome patients" @default.
- W2020068899 doi "https://doi.org/10.1016/j.bone.2007.09.040" @default.
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