One-carbon metabolism and folate transporter genes: Do they factor prominently in the genetic etiology of neural tube defects?

被引:27
|
作者
Steele, John W. [1 ,2 ]
Kim, Sung-Eun [4 ]
Finnell, Richard H. [1 ,3 ]
机构
[1] Baylor Coll Med, Ctr Precis Environm Hlth, Houston, TX 77030 USA
[2] Univ Texas Austin, Inst Cellular & Mol Biol, Austin, TX 78712 USA
[3] Baylor Coll Med, Dept Mol & Cellular Biol Mol & Human Genet & Med, Houston, TX 77030 USA
[4] Univ Texas Austin, Dell Med Sch, Dept Pediat, Austin, TX 78723 USA
关键词
Neural tube defects; One-carbon metabolism; Folate transporters; Genomics; DIHYDROFOLATE-REDUCTASE DHFR; DELETION POLYMORPHISM; SPINA-BIFIDA; FOLIC-ACID; RISK; SYSTEM; RECOGNITION; ASSOCIATION; MUTATIONS; INTRON-1;
D O I
10.1016/j.biochi.2020.02.005
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
Neural tube defects (NTDs) are a broad class of congenital birth defects that result from the failure of neural tube closure during neurulation. Folic acid supplementation has been shown to prevent the occurrence of NTDs by as much as 70% in some human populations, and folate deficiency in a pregnant woman is associated with increased risk for having an NTD affected infant. Thus, folate transport-related genes and genes involved in the subsequent folate-mediated one-carbon metabolic pathway have long been considered primary candidates to study the genetic etiology of human NTDs. Herein, we review the genes involved in folate transport and one- carbon metabolism thus far identified as contributing variants that influence human NTD risk, and place these findings in the context of our evolving understanding of the complex genetic architecture underlying these defects. (c) 2020 Elsevier B.V. and Societe Francaise de Biochimie et Biologie Moleculaire (SFBBM). All rights reserved.
引用
收藏
页码:27 / 32
页数:6
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