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
相关论文
共 50 条
  • [41] Methylenetetrahydrofolate reductase (MTHFR) and methionine synthase (MS) polymorphisms are associated with a decreased risk of cervical dysplasia
    Henao, OL
    Piyathilake, CJ
    Waterbor, J
    Johanning, G
    Heimburger, D
    Macaluso, M
    Funkhouser, E
    Partridge, E
    FASEB JOURNAL, 2003, 17 (04): : A373 - A373
  • [42] Interplay between 3′-UTR polymorphisms in the methylenetetrahydrofolate reductase (MTHFR) gene and the risk of ischemic stroke
    Jung Oh Kim
    Han Sung Park
    Chang Soo Ryu
    Jung-Won Shin
    Jinkwon Kim
    Seung Hun Oh
    Ok Joon Kim
    Nam Keun Kim
    Scientific Reports, 7
  • [43] Effectiveness of folic acid (FA) supplementation in Mexican women with genetic methylenetetrahydrofolate reductase (MTHFR) polymorphisms
    Maria De Regil, Luz
    Casanueva, Esther
    Ramirez, Arlete
    Meza, Carlos
    Hernandez-Guerrero, Cesar
    Viteri, Fernando E.
    FASEB JOURNAL, 2008, 22
  • [44] Associations Between Psoriasis and Methylenetetrahydrofolate Reductase (MTHFR) Polymorphisms: A Systematic Review and Meta-Analysis
    Haught, Katrina
    Matsuo, Rika
    Guo, William
    Na, Sean
    Lu, Kimberly
    Kaufmann, Tara
    Siamas, Katherine
    JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY, 2023, 89 (03) : AB125 - AB125
  • [45] Association of methylenetetrahydrofolate reductase (MTHFR) polymorphisms with genetic susceptibility to gastric cancer: a meta-analysis
    Zintzaras, Elias
    JOURNAL OF HUMAN GENETICS, 2006, 51 (07) : 618 - 624
  • [46] Interplay between 3′-UTR polymorphisms in the methylenetetrahydrofolate reductase (MTHFR) gene and the risk of ischemic stroke
    Kim, Jung Oh
    Park, Han Sung
    Ryu, Chang Soo
    Shin, Jung-Won
    Kim, Jinkwon
    Oh, Seung Hun
    Kim, Ok Joon
    Kim, Nam Keun
    SCIENTIFIC REPORTS, 2017, 7
  • [47] Interactive effects of methylenetetrahydrofolate reductase (MTHFR) polymorphisms and serum folate status on negative symptoms of schizophrenia
    Roffman, JL
    Weiss, AP
    Purcell, S
    Freudenreich, O
    Henderson, DC
    Wong, DH
    Halsted, CH
    Goff, DC
    BIOLOGICAL PSYCHIATRY, 2006, 59 (08) : 131S - 131S
  • [48] Application of microarray for methylenetetrahydrofolate reductase (MTHFR) polymorphisms in the risk of gastric carcinoma of east China population
    He, Nongyue
    Li, Song
    Ji, Meiju
    ABSTRACTS OF PAPERS OF THE AMERICAN CHEMICAL SOCIETY, 2007, 233 : 24 - 24
  • [49] METHYLENETETRAHYDROFOLATE REDUCTASE (MTHFR) AND THYMIDYLATE SYNTHASE (TYMS) POLYMORPHISMS IN SURVIVAL OF SPORADIC COLORECTAL ADENOCARCINOMA PATIENTS
    Lima, C. S. P.
    Sagarra, R. A. M.
    Angelo, S. N.
    Scherr, A. J. O.
    Franca, B. A. L.
    Nascimento, H.
    Sasse, A.
    Coy, C. S. R.
    ANNALS OF ONCOLOGY, 2008, 19 : 140 - 140
  • [50] Polymorphisms of methylenetetrahydrofolate reductase (MTHFR) and susceptibility to pediatric acute lymphoblastic leukemia in a German study population
    Schnakenberg, E
    Mehles, A
    Cario, G
    Rehe, K
    Seidemann, K
    Schlegelberger, B
    Elsner, HA
    Welte, KH
    Schrappe, M
    Stanulla, M
    BMC MEDICAL GENETICS, 2005, 6
12345