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

页码：689 / 699

页数：11

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