MTHFR基因多态性与维生素D缺乏对学龄期注意缺陷多动障碍儿童认知功能的影响  

Effects of MTHFR gene polymorphism and vitamin D deficiency on cognitive function in school-age children with attention deficit/hyperactivity disorder

作　　者：史亚楠[1] 王立宁[2] SHI Yanan;WANG Lining(Child Health Care Department,Hebei Center for Women and Children’s Health,Shijiazhuang,Hebei 050031,China;Functional Laboratory,Hebei Center for Women and Children’s Health,Shijiazhuang,Hebei 050031,China)

机构地区：[1]河北省妇幼保健中心儿童保健科,河北石家庄050031 [2]河北省妇幼保健中心功能检验科,河北石家庄050031

出　　处：《中国优生与遗传杂志》2023年第10期2066-2071,共6页Chinese Journal of Birth Health & Heredity

摘　　要：目的 探讨MTHFR基因多态性与维生素D缺乏对学龄期注意缺陷多动障碍(ADHD)儿童认知功能的影响。方法 选择2021年3月至2023年4月于河北省妇幼保健中心收治的45例有认知障碍的学龄期ADHD儿童作为观察组,选择同期于河北省妇幼保健中心进行体检的51例无认知功能障碍的学龄期ADHD儿童作为对照组。比较两组的一般资料及分析MTHFR基因多态性。检测并比较两组儿童MTHFR基因多态性位点基因型及等位基因频率分布。结果 两组在父母亲文化程度、WISC-Ⅳ评估(言语理解、知觉推理、工作记忆、加工速度、总智商)、25-羟维生素D[25(OH)D]、铜、锌、铅方面差异具有统计学意义(P<0.05)。野生型CC纯合子产生长度为198 bp的片段,变异型TT纯合子产生长度为175bp的片段,杂合子CT为2个长度为198bp和175bp的片段,MTHFR677C>T基因一致性为100%。两组CC、CT、TT基因频率及基因C、T分布,差异均有统计学意义(P<0.05)。MTHFR677C>T位点基因型TT(OR=5.900,95%CI:1.326~20.721)、携带等位基因T(OR=4.335,95%CI:1.065~21.675)和25(OH)D水平(OR=6.624,95%CI:1.816~22.175)是ADHD儿童认知功能障碍的独立危险因素(P<0.05)。MTHFR 677C>T位点基因型TT与25(OH)D低水平在ADHD儿童认知功能障碍易感性中呈正向交互作用(3.556>1.576×2.156,为次相乘模型)。结论MTHFR677C>T位点基因型TT的学龄期ADHD儿童属认知功能障碍的高危人群,这些基因型和25(OH)D低水平的交互作用促进了学龄期ADHD儿童认知功能障碍的发生发展,临床可通过调节25(OH)D水平以及基因调控达到预防学龄期ADHD儿童认知功能障碍的目的。Objective To investigate the effects of MTHFR gene polymorphism and vitamin D deficiency on cognitive function in school-age children with attention deficit/hyperactivity disorder.Methods 45 school-age children with ADHD with cognitive impairment admitted to Maternal and Child Health Center of Hebei Province from March 2021 to April 2023 were selected as the observation group,and 51 school-age children with ADHD without cognitive impairment who underwent physical examination in Maternal and child Health center of Hebei Province during the same period were selected as the control group.The general data of the two groups were compared and MTHFR gene polymorphism was analyzed.The genotypes and allelic frequency distribution of MTHFR gene polymorphic loci were detected and compared between the two groups.Results There were significant differences in parental education,WSIC-Ⅳassessment(speech comprehension,perceptual reasoning,working memory,processing speed,total IQ),25-hydroxyvitamin D[25(OH)D],copper,zinc and lead between the two groups(P<0.05).The wild-type CC homozygote produced a fragment with length of 198 bp,the TT homozygote produced a fragment with length of 175 bp,the heterozygote CT produced two fragments with length of 198 bp and 175 bp,and the MTHFR 677C>T gene was 100%consistent.There were significant differences in CC,CT and TT gene frequencies and gene C and T distribution between the two groups(P<0.05).MTHFR 677C>T genotype TT(OR=5.900,95%CI:1.326~20.721),carrying allele T(OR=4.335,95%CI:1.065~21.675)and 25(OH)D level(OR=6.624,95%CI:1.816~22.175)were independent risk factors for cognitive dysfunction in ADHD children(P<0.05).MTHFR 677C>T locus TT positively interacts with low 25(OH)D levels in susceptibility to cognitive dysfunction in children with ADHD(3.556>1.576×2.156,submultiplication model).Conclusion School-age ADHD children with MTHFR 677C>T genotype TT are at high risk for cognitive dysfunction.The interaction between these genotypes and low level of 25(OH)D promotes the occurrence and de

关 键 词：亚甲基四氢叶酸还原酶基因多态性 维生素D 注意缺陷多动障碍 认知功能 

分 类 号：R749.94[医药卫生—神经病学与精神病学]