Genetic aspects of hyperhomocysteinemia in chronic kidney disease.
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.
Sunder-Plassmann
Gere
G
Department 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
Winkelmayer
Wolfgang C
WC
Födinger
Manuela
M
D002908:Chronic Disease; D006801:Humans; D020138:Hyperhomocysteinemia / Q000209:etiology* / Q000235:genetics*; D007674:Kidney Diseases / Q000150:complications*; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics; D011110:Polymorphism, Genetic
D042965:Methylenetetrahydrofolate Reductase (NADPH2)