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Genetic variation in genes of folate metabolism and neural-tube defect risk

Ivon J M van der Linden1, Lydia A Afman, Sandra G Heil

  • 1Laboratory of Pediatrics and Neurology, Radboud University Nijmegen Medical Center, PO Box 9101, 6500 HB Nijmegen, The Netherlands.

The Proceedings of the Nutrition Society
|May 5, 2006
PubMed

Insights

Folic acid prevents neural-tube defects (NTD). Genetic variations in folate and homocysteine metabolism genes are linked to NTD risk, highlighting the importance of these genetic factors.

Area of Science:

  • Genetics
  • Biochemistry
  • Public Health

Background:

  • Neural-tube defects (NTD) are significant congenital malformations.
  • Periconceptional folic acid intake prevents 50-70% of NTD cases.
  • Genetic factors, like MTHFR C677T polymorphism, influence NTD risk.

Purpose of the Study:

  • To review genetic variations in folate and homocysteine metabolism.
  • To discuss the role of these variations in NTD risk.

Main Methods:

  • Literature review of genetic polymorphisms.
  • Analysis of enzymes in folate and homocysteine pathways.
  • Summary of single-nucleotide polymorphisms (SNPs) and their association with NTD.

Main Results:

  • Identified key SNPs in genes for folate transport, uptake, and metabolism.
  • Highlighted the association between genetic variations and elevated homocysteine levels.
  • Emphasized the link between these genetic factors and NTD susceptibility.

Conclusions:

  • Genetic variations in folate and homocysteine metabolism pathways are crucial for NTD risk.
  • Understanding these genetic factors can inform prevention strategies.
  • Further research into genetic influences on NTD is warranted.

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