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