出生缺陷高发区编码叶酸代谢关键酶基因多态性与围孕期叶酸补充效果关系研究

项目名称： 出生缺陷高发区编码叶酸代谢关键酶基因多态性与围孕期叶酸补充效果关系研究

项目编号： No.81202218

项目类型： 青年科学基金项目

立项/批准年度： 2013

项目学科： 预防医学、地方病学、职业病学、放射医学

项目作者： 程悦

作者单位： 西安交通大学

项目金额： 23万元

中文摘要： 亚甲基四氢叶酸还原酶(MTHFR)是一种重要的叶酸代谢酶，此酶基因突变可造成叶酸代谢异常。叶酸营养状况不良与神经管畸形等重大出生缺陷有关。通常在出生缺陷高发区妇女膳食营养素摄入不足，该地区中携带MTHFR667TT型基因的妇女，叶酸营养状况不良风险更高。这些妇女围孕期补充常规剂量（400微克/日）后叶酸营养状况以及补充前后变化情况未知。为探讨出生缺陷高发区，叶酸补充效果与编码MTHFR基因多态性的关系，为探索高危地区个体化营养指导方案建立提供依据。本研究应用队列研究方法和营养流行病学方法，观察编码MTHFR677不同基因型孕期妇女，服用孕期叶酸营养素补充剂后，机体叶酸营养状况变化情况，并综合考虑膳食营养素摄入水平的影响，阐明编码MTHFR667基因多态性与叶酸补充效果的关系，为政府制定政策进一步建立与完善出生缺陷预防控制体系，降低出生缺陷发生、提高人口素质、促进人群健康提出依据。

中文关键词： 叶酸增补；孕期膳食；公平性；叶酸营养状况；代谢

英文摘要： Methylenetetrahydrofolate reductase (MTHFR) is an important enzyme of folate metabolism. Genetic variation in MTHFR gene can lead abnormal folate metabolism. Low folate level in human is associated with major birth defects such as neural tube defects. Women from areas with high incidence of birth defects were inclined to have lower dietary nutrients intake. If these women carried MTHFR667TT single nucleotide polymorphisms (snp), they could suffer from higher risk of poor folate status. Yet the folate status and the change after folic acid supplementation during periconceptional period are still unclear. This study aims to provide base for setting up protocol of individualized nutrition program. By studying approaches including cohort study and nutritional study, observing difference of folate stutus and the change of women with different MTHFR667 snp after periconceptional folic acid supplementation with assessment of dietary nutrients intake. Finally, the association between MTHFR667 SNP and effect of periconceptional folic acid supplementation will be explored. The findings provide basis for the government to develop policies to further establish and improve birth defects prevention and control system to reduce the incidence of birth defects and improve population quality, and promoting health.

英文关键词： Folic acid supplementation；Pregnancy diet；Equity；Folic acid status；metabolism