Journal of International Reproductive Health/Family Planning ›› 2021, Vol. 40 ›› Issue (6): 519-523.doi: 10.12280/gjszjk.20210128

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Polymorphism of Folic Acid Carrier Gene and Fetal Neural Tube Malformation

PEI Jiao-jiao, XIE Jiang-yan(), WU Xiao-li   

  1. Department of Obstetrics and Gynecology, The First Affiliated Hospital of Chengdu Medical College, Chengdu 610500, China
  • Received:2021-03-18 Published:2021-11-15 Online:2021-11-30
  • Contact: XIE Jiang-yan E-mail:68018026@qq.com

Abstract:

Folic acid is the natural form of a group of water-soluble vitamins (vitamin B9). As a coenzyme of a one-carbon unit transferase system, folic acid provides important raw materials for methylation and nucleic acid synthesis in vivo. Its derivatives are also the substrates of many one-carbon unit transfer reactions. Dietary sources of folic acid include leafy green vegetables, legumes and fortified cereal products. The bioavailability of folic acid depends not only on dietary intake but also on the cellular mechanisms that regulate folic acid absorption and metabolism, as well as the genetic polymorphism of key carriers in folic acid metabolic pathways. The risk of neural tube defect (NTD) is different among individuals with the same eating habits, and the contribution of the same folic acid concentration to red blood cells is also different. It is more and more important to understand the mechanism of NTD through the study of folic acid absorption and transport. The gene polymorphism of folic acid carrier is an excellent candidate for studying the mechanism of NTD, which provides a theoretical basis for a scientific and individual supplement of folic acid that is easy to absorb.

Key words: Polymorphism, single nucleotide, Folic acid, Carrier proteins, Folate receptor, Neural tube defects