Original Paper

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 XieAffiliated withCapital Institute of Pediatrics
  • , Jin GuoAffiliated withCapital Institute of Pediatrics
  • , Jianhua WangAffiliated withCapital Institute of Pediatrics
  • , Fang WangAffiliated withCapital Institute of Pediatrics
  • , Huizhi ZhaoAffiliated withCapital Institute of Pediatrics
  • , Chi LiuAffiliated withCapital Institute of Pediatrics
  • , Li WangAffiliated withCapital Institute of Pediatrics
  • , Xiaolin LuAffiliated withCapital Institute of Pediatrics
  • , Lihua WuAffiliated withCapital Institute of Pediatrics
    • , Yihua BaoAffiliated withCapital Institute of Pediatrics
    • , Jizhen ZouAffiliated withCapital Institute of Pediatrics
    • , Ting ZhangAffiliated withCapital Institute of Pediatrics Email author 
    • , Bo NiuAffiliated withCapital Institute of Pediatrics Email author 

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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 defects GCPII Polymorphism Association study