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

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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.

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Acknowledgement

We are grateful to all the participants in this study, and we thank to all obstetricians in the local hospital at Shanxi Province, as well as the pathologists in the Department of Pathology for the diagnosis. We appreciate Dr Kunlin Zhang’s assistance for the analysis of protein crystal structure. We also thank all subjects and their family members for their cooperation in providing both clinical information and samples for the study.

The authors disclosed receipt of the following financial support for the research and/or authorship of this article: the Ministry of Science and Technology of the P. R. China, National “973” project on Population and Health (2007CB511901), National Natural Science Foundation of China (Project 81070491)

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Authors and Affiliations

  1. Capital Institute of Pediatrics, Beijing, 100020, People’s Republic of China

    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

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  1. Hua Xie
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  2. Jin Guo
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  3. Jianhua Wang
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  4. Fang Wang
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  7. Li Wang
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  13. Bo Niu
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Correspondence to Ting Zhang or Bo Niu.

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Hua Xie and Jin Guo contributed equally to this manuscript.

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Xie, H., Guo, J., Wang, J. et al. Glutamate carboxypeptidase II gene polymorphisms and neural tube defects in a high-risk Chinese population. Metab Brain Dis 27, 59–65 (2012). https://doi.org/10.1007/s11011-011-9272-8

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  • DOI: https://doi.org/10.1007/s11011-011-9272-8

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