5,10-Methylenetetrahydrofolate reductase polymorphisms and pharmacogenetics: A new role of single nucleotide polymorphisms in the folate metabolic pathway in human health and disease

被引:8
|
作者
Kim, YI
机构
[1] Univ Toronto, Dept Med, Div Gastroenterol, St Michaels Hosp, Toronto, ON M5S 1A8, Canada
[2] Univ Toronto, Dept Nutr Sci, Div Gastroenterol, St Michaels Hosp, Toronto, ON M5S 1A8, Canada
关键词
DNA methylation; folate; MTHFR; single nucleotide polymorphisms;
D O I
10.1301/nr.2005.nov.398-407
中图分类号
R15 [营养卫生、食品卫生]; TS201 [基础科学];
学科分类号
100403 ;
摘要
Knowledge about the role of folate, a water-soluble B vitamin, and single nucleotide polymorphisms (SNPs) in the folate metabolic pathway in human health and disease has been rapidly expanding. Recently, functionally significant SNPs in 5,10-methylenetetrahydrofolate reductase (MTHFR), a critical enzyme for intracellular folate homeostasis and metabolism, have been identified and characterized. An emerging body of in vitro and clinical evidence suggests that these MTHFR SNPs may be an important pharmacogenetic determinant of predicting response to and toxicity of methotrexate and 5-fluorouracil-based cancer and anti-inflammatory treatments. because of their well-defined and highly relevant biochemical effects on intracellular folate composition and one-carbon transfer reactions.
引用
收藏
页码:398 / 407
页数:10
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