期刊
GENES & GENOMICS
卷 39, 期 7, 页码 689-699出版社
SPRINGER
DOI: 10.1007/s13258-017-0552-5
关键词
Folate pathway; Homocysteine; Hyperhomocysteinemia; Methylenetetrahydrofolate reductase; Single nucleotide polymorphism
Gene polymorphisms involved in homocysteine-methionine pathway result in hyperhomocysteinemia, a predisposing condition to several diseases. Methylenetetrahydrofolate reductase (MTHFR) is a key enzyme in folate and homocysteine metabolism. The two known functional polymorphisms of MTHFR gene, 677C > T and 1298A > C have been implicated in a variety of multifactorial diseases: cardio-cerebrovascular and neurodegenerative disorders, autoimmune diseases, birth defects, diabetes, neuropsychiatric disorders, cancer and renal disease. C667T, and to a lesser extent A1298C polymorphisms, have been also reported to have a pharmacogenetic role in predicting drug toxicity in cancer and rheumatoid arthritis treatment. We review here the principal effects of the MTHFR gene variations in different clinical conditions.
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