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Published on: November 7, 2017
Genetic aspects of hyperhomocysteinemia in chronic kidney disease
Gere Sunder-Plassmann1, Wolfgang C Winkelmayer, Manuela Födinger
1Department of Medicine III, Medical University Vienna, Vienna, Austria, and the Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA. gere.sunder-plassmann@meduniwien.ac.at
Abstract:
Patients with chronic kidney disease who are on dialysis or with a kidney transplant have higher total plasma homocysteine concentrations than individuals who are free from kidney disease. Several single-nucleotide polymorphisms of genes encoding enzymes that are involved in homocysteine metabolism have been studied in these patients. These polymorphisms are located in genes encoding of 5,10-methylenetetrahydrofolate reductase (MTHFR), methionine synthase reductase, methionine synthase, cystathionine beta-synthase, glutamate carboxy peptidase II, reduced folate carrier 1, and transcobalamin II. Among the single-nucleotide polymorphisms studied, only MTHFR 677C>T was associated consistently with total plasma homocysteine levels, but there currently is no evidence of any association between MTHFR 677C>T genotype and long-term outcomes.
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