Methylenetetrahydrofolate reductase, MTHFR, polymorphisms and predisposition to different multifactorial disorders

被引：9
|
作者：
Cristalli, Carlotta Pia [1 ,2 ]
Zannini, Chiara [1 ,3 ]
Comai, Giorgia [1 ]
Baraldi, Olga [1 ]
Cuna, Vania [1 ]
Cappuccilli, Maria [1 ]
Mantovani, Vilma [2 ,4 ]
Natali, Niccolo [1 ]
Cianciolo, Giuseppe [1 ]
La Manna, Gaetano [1 ]
机构：
[1] Univ Bologna, St Orsola Hosp, Dept Expt Diagnost & Specialty Med DIMES, Nephrol Dialysis & Transplantat Unit, Via G Massarenti 9 Pad 15, I-40138 Bologna, Italy
[2] Univ Bologna, Ctr Appl Biomed Res CRBA, Bologna, Italy
[3] Univ Bologna, Dept Expt Diagnost & Specialty Med DIMES, Histol Sect, Bologna, Italy
[4] Univ Bologna, St Orsola Hosp, Genet Unit, Bologna, Italy
来源：
GENES & GENOMICS | 2017年 / 39卷 / 07期
关键词：
Folate pathway; Homocysteine; Hyperhomocysteinemia; Methylenetetrahydrofolate reductase; Single nucleotide polymorphism; NEURAL-TUBE DEFECTS; CHRONIC KIDNEY-DISEASE; STAGE RENAL-DISEASE; CARDIOVASCULAR-DISEASE; GENE POLYMORPHISMS; FOLIC-ACID; MYOCARDIAL-INFARCTION; ISCHEMIC-STROKE; RHEUMATOID-ARTHRITIS; PLASMA HOMOCYSTEINE;
D O I：
10.1007/s13258-017-0552-5
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
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.
引用
收藏
页码：689 / 699
页数：11
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