Metabolic Brain Disease

, Volume 27, Issue 1, pp 59–65

Glutamate carboxypeptidase II gene polymorphisms and neural tube defects in a high-risk Chinese population

  • Hua Xie
  • Jin Guo
  • Jianhua Wang
  • Fang Wang
  • Huizhi Zhao
  • Chi Liu
  • Li Wang
  • Xiaolin Lu
  • Lihua Wu
  • Yihua Bao
  • Jizhen Zou
  • Ting Zhang
  • Bo Niu
Original Paper

DOI: 10.1007/s11011-011-9272-8

Cite this article as:
Xie, H., Guo, J., Wang, J. et al. Metab Brain Dis (2012) 27: 59. doi:10.1007/s11011-011-9272-8
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Abstract

Glutamate carboxypeptidase II (GCPII) catalyzes the hydrolysis of N-acetylaspartylglutamate into N-acetylaspartate and glutamate in the brain. Animal experiments suggested that GCPII plays an essential role in early embryonic development. Previous studies provided conflicting results on the effect of the GCPII rs61886492 C>T (or 1561C>T) polymorphism on NTDs. In the Lvliang area of Shanxi province, where the incidence of NTDs is the highest in China, a case–control study was conducted to investigate possible association between the GCPII rs61886492 and rs202676 polymorphisms and NTD risk. Results indicated all the case and control samples displayed the rs61886492 GG genotype. Although no significant differences in rs202676 genotype or allele frequencies were found between the NTD and control groups, the combined AG+GG genotype group was significantly associated with anencephaly (p = 0.03, OR = 2.11, 95% CI, 1.11–4.01), but not with spina bifida or encephalocele. Overall, the rs202676 A>G polymorphism is a potential risk factor for anencephaly. The results of this study suggest that phenotypic heterogeneity may exist among NTDs in this Chinese population.

Keywords

Neural tube defectsGCPIIPolymorphismAssociation study

Copyright information

© Springer Science+Business Media, LLC 2011

Authors and Affiliations

  • Hua Xie
    • 1
  • Jin Guo
    • 1
  • Jianhua Wang
    • 1
  • Fang Wang
    • 1
  • Huizhi Zhao
    • 1
  • Chi Liu
    • 1
  • Li Wang
    • 1
  • Xiaolin Lu
    • 1
  • Lihua Wu
    • 1
  • Yihua Bao
    • 1
  • Jizhen Zou
    • 1
  • Ting Zhang
    • 1
  • Bo Niu
    • 1
  1. 1.Capital Institute of PediatricsBeijingPeople’s Republic of China