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KMID : 0381120170390070689
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Genes and Genomics
2017 Volume.39 No. 7 p.689 ~ p.699
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Methylenetetrahydrofolate reductase, MTHFR, polymorphisms and predisposition to different multifactorial disorders
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Cristalli Carlotta Pia
Zannini Chiara
Comai Giorgia
Baraldi Olga
Cuna Vania
Cappuccilli Maria
Mantovani Vilma
Natali Niccolo
Cianciolo Giuseppe
La Manna Gaetano
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Abstract
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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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KEYWORD
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Folate pathway, Homocysteine, Hyperhomocysteinemia, Methylenetetrahydrofolate reductase, Single nucleotide polymorphism
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