Neural Regeneration Research ›› 2012, Vol. 7 ›› Issue (6): 463-469.

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An epidemiologic study of mitochondrial membrane transporter protein gene polymorphism and risk factors for neural tube defects in Shanxi, China

Zhizhen Liu1, Jun Xie1, Tian’e Luo2, Tao Zhang3, Xia Zhao4, Hong Zhao1, Peizhen Li5   

  1. 1 Department of Biochemistry and Molecular Biology, Shanxi Medical University, Taiyuan 030001, Shanxi Province, China
    2 Department of Epidemiology and Statistics, Shanxi Medical University, Taiyuan 030001, Shanxi Province, China
    3 Shanghai Yangpu District Center for Disease Control and Prevention, Shanghai 200093, China
    4 Department of Physical and Chemical Detection, Shanxi Centre for Disease Control and Prevention, Taiyuan 030001, Shanxi Province, China
    5 Department of Epidemiology, Zhuhai Campus of Zunyi Medical College, Zhuhai 519041, Guangdong Province, China
  • Received:2011-09-02 Revised:2011-12-02 Online:2012-02-25 Published:2012-02-25
  • Contact: Peizhen Li, Doctor, Professor, Department of Epidemiology, Zhuhai Campus of Zunyi Medical College, Zhuhai 519041, Guangdong Province, China lipz228@sina.com
  • About author:Zhizhen Liu☆, Doctor, Associate professor, Department of Biochemistry and Molecular Biology, Shanxi Medical University, Taiyuan 030001, Shanxi Province, China

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Abstract:

The present study involved a questionnaire survey of 156 mothers that gave birth to children with neural tube defects or had a history of pregnancy resulting in children with neural tube defects (case group) and 156 control mothers with concurrent healthy children (control group) as well as detection of mitochondrial membrane transporter protein gene [uncoupling protein 2 (UCP2)] polymorphism. The maternal UCP2 3’ untranslated region (UTR) D/D genotype and D allele frequency were significantly higher in the case group compared with the control group (odds ratio (OR) 3.233; 95% confidence interval (CI) 1.103-9.476; P = 0.040; OR: 3.484; 95% CI: for neural tube defects 2.109-5.753; P < 0.001). Univariate and multivariate logistic regression analysis of risk factors for neural tube defects showed that a maternal UCP2 3’ UTR D/D genotype was negatively interacted with the mothers’ consumption of frequent fresh fruit and vegetables (S = 0.007), positively interacted with the mothers’ frequency of germinated potato consumption (S = 2.15) and positively interacted with the mothers’ body mass index (S = 3.50). These findings suggest that maternal UCP2 3’ UTR gene polymorphism, pregnancy time, consumption of germinated potatoes and body mass index are associated with an increased risk for neural tube defects in children from mothers living in Shanxi province, China. Moreover, there is an apparent gene-environment interaction involved in the development of neural tube defects in offspring.

Key words: neural tube defects, uncoupling protein 2, genetic polymorphisms, risk factors, interaction