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Carlotta Pia Cristalli,Chiara Zannini,Giorgia Comai,Olga Baraldi,Vania Cuna,Maria Cappuccilli,Vilma Mantovani,Niccolò Natali,Giuseppe Cianciolo,Gaetano La Manna 한국유전학회 2017 Genes & Genomics Vol.39 No.7
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.