Genes & Nutrition

, Volume 8, Issue 2, pp 191–197

The maternal folate hydrolase gene polymorphism is associated with neural tube defects in a high-risk Chinese population

Authors

  • Jin Guo
    • Capital Institute of Pediatrics
  • Hua Xie
    • Capital Institute of Pediatrics
  • Jianhua Wang
    • Capital Institute of Pediatrics
  • Huizhi Zhao
    • Capital Institute of Pediatrics
  • Fang Wang
    • Capital Institute of Pediatrics
  • Chi Liu
    • Capital Institute of Pediatrics
  • Li Wang
    • Capital Institute of Pediatrics
  • Xiaolin Lu
    • Capital Institute of Pediatrics
  • Yihua Bao
    • Capital Institute of Pediatrics
  • Jizhen Zou
    • Capital Institute of Pediatrics
  • Guoliang Wang
    • Capital Institute of Pediatrics
    • Department of Molecular ImmunologyCapital Institute of Pediatrics No. 2
    • Department of BiotechnologyCapital Institute of Pediatrics, No. 2
    • Capital Institute of Pediatrics
    • Department of Molecular ImmunologyCapital Institute of Pediatrics No. 2
Research Paper

DOI: 10.1007/s12263-012-0309-3

Cite this article as:
Guo, J., Xie, H., Wang, J. et al. Genes Nutr (2013) 8: 191. doi:10.1007/s12263-012-0309-3
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Abstract

Folate hydrolase 1 (FOLH1) gene encodes intestinal folate hydrolase, which regulates intestinal absorption of dietary folate. Previous studies on the association between polymorphisms rs202676 and rs61886492 and the risk of neural tube defects (NTDs) were inconclusive. A case–control study of women with NTD-affected pregnancies (n = 160) and controls (n = 320) was conducted in the Chinese population of Lvliang, a high-risk area for NTDs. We genotyped the polymorphic sites rs202676 and rs61886492 and assessed maternal plasma folate and total homocysteine (tHcy). Our results showed that in case group, plasma folate concentrations were 18 % lower compared with those of control group (8.32 vs. 6.79 nmol/L, p = 0.033) and tHcy concentrations were 17 % higher (10.47 vs. 12.65 μmol/L, p = 0.047). Almost all samples had the rs61886492 GG genotype (99.78 %). The result showed that the frequency of GG genotype in rs202676 was significantly higher in group with multiple NTDs than in controls (p = 0.030, OR = 2.157, 95 % CI, 1.06–4.38). The multiple-NTD group showed higher maternal plasma concentrations of tHcy (10.47 vs. 13.96 μmol/L, p = 0.024). The GG genotype of rs202676 had a lower maternal folate and higher tHcy concentrations than other genotypes with no significant differences. The result of structural prediction indicated that this variation might change the spatial structure of the protein. These results suggested that the maternal polymorphism rs202676 was a potential risk factor for multiple NTDs in this Chinese population. The allele G might affect maternal plasma folate and tHcy concentration.

Keywords

Association studyChinese populationFOLH1Neural tube defectsSingle-nucleotide polymorphism

Copyright information

© Springer-Verlag 2012