Ou Lingling, Peng Luolan, Wang Jingbo, Han Chao, Zhao Xiayu, Wang Mengyao, Wang Mengtian, Gong Zhaolong, Li Yan
National Institute for Nutrition and Health, Chinese Center for Disease Control and Prevention, Beijing 100050, China.
People's Medical Publishing House Research Institute, Beijing 100021, China.
Nutrients. 2025 Aug 18;17(16):2666. doi: 10.3390/nu17162666.
: Subnormal folate levels have a detrimental impact on the growth and development of preschoolers. We aimed to investigate the association between independent/synergistic effects of the gene polymorphisms (methyltetrahydrofolate reductase (MTHFR) and polymorphisms, alongside methionine synthase reductase (MTRR) polymorphism and the methionine synthase (MTR) polymorphism) and serum folate levels as well as cognitive levels in Chinese preschoolers aged 5-7 years. : Data were sourced from 614 children, acquired through the "Long-term Health Effects Assessment Project of Infants and Toddlers Nutritional Pack (LHEAITNP)" program were used. Folate serum concentrations were measured using a microbiologically modified technique. The genotypes of MTHFR and , together with MTRR , were identified by Kramer's Allele-Specific PCR (KASP) technique. The cognitive scores of children were assessed by questionnaire. : MTHFR and MTR correlated negatively with serum folate levels ( vs. , = 0.0009 and vs. , = 0.0057, respectively). MTHFR and were independently linked to an elevated risk of suboptimal cognitive development ( vs. , = 0.0009 and vs. , < 0.0001, respectively). The joint impact of these risk genotypes showed significantly increased risk of folate deficiency and inferior cognitive function compared to non-risk genotypes, particularly in those with more than two risk genotypes. The findings were corroborated by a cumulative effects model ( < 0.05). : Our results indicate the substantial association between folate-homocysteine metabolism gene variants and serum folate status/cognitive performance in Chinese preschoolers. Potential gene-nutrient interactions worthy of longitudinal investigation.
叶酸水平低于正常对学龄前儿童的生长发育有不利影响。我们旨在研究基因多态性（甲基四氢叶酸还原酶（MTHFR）多态性、甲硫氨酸合成酶还原酶（MTRR）多态性以及甲硫氨酸合成酶（MTR）多态性）的独立/协同效应与中国5至7岁学龄前儿童血清叶酸水平及认知水平之间的关联。：数据来源于614名儿童，这些数据是通过“婴幼儿营养包长期健康效应评估项目（LHEAITNP）”计划获得的。采用微生物改良技术测量血清叶酸浓度。通过克莱默等位基因特异性PCR（KASP）技术鉴定MTHFR以及MTRR的基因型。通过问卷调查评估儿童的认知得分。：MTHFR和MTR与血清叶酸水平呈负相关（分别为 vs. ， = 0.0009和 vs. ， = 0.0057）。MTHFR和分别独立地与认知发育欠佳风险升高相关（分别为 vs. ， = 0.0009和 vs. ， < 0.0001）。与非风险基因型相比，这些风险基因型的联合影响显示叶酸缺乏和认知功能较差的风险显著增加，尤其是在具有两种以上风险基因型的儿童中。累积效应模型证实了这些发现（ < 0.05）。：我们的结果表明叶酸-同型半胱氨酸代谢基因变异与中国学龄前儿童血清叶酸状态/认知表现之间存在实质性关联。潜在的基因-营养素相互作用值得进行纵向研究。
