ApoE基因多态性与学龄前高功能孤独症谱系障碍儿童执行功能的相关性

Association of ApoE gene polymorphisms with executive function in preschool children with high-functioning autism spectrum disorders

目的探讨载脂蛋白E(ApoE)基因多态性与学龄前高功能孤独症谱系障碍(HFA)儿童执行功能的相关性。方法选择2021年10月至2023年10月于泸州市精神病医院收治的215例有执行功能障碍的学龄前HFA儿童作为HFA组,选择同期于医院进行体检的142例健康儿童作为对照组。经倾向性评分匹配2∶1,HFA组(136例)和对照组(68例)。比较两组的一般资料及ApoE基因多态性位点基因型及等位基因频率分布。分析ApoE基因多态性与学龄前HFA易感性关系。不同ApoE基因亚型HFA患者的执行功能比较,多元线性回归分析不同ApoE基因亚型与执行功能参数的关系,及HFA患儿执行功能障碍的影响因素。结果在HFA组和对照组中最常见的等位基因为ε4,且ε4型基因携带者HFA的发生风险是未携带者的1.78倍(P<0.05)。等位基因模型中ε4等位基因明显增加HFA患儿执行功能障碍风险(P<0.01)。三组ApoE基因亚型患者的抑制、转移、情感控制、工作记忆、组织计划、抑制自我调控指数(ISCI)、认知灵活性指数(FI)、元认知指数(EMI)水平差异均具有统计学意义(P<0.05)。其中ε4型患者的执行功能障碍水平均高于其余两组。抑制、转移、情感控制、工作记忆、组织计划、ISCI、FI、EMI水平、ApoE基因型ε4是HFA患儿执行功能障碍的影响因素(P<0.05)。结论携带ε4等位基因和抑制、转移、情感控制、工作记忆、组织计划、ISCI、FI、EMI高水平与学龄前HFA儿童执行功能障碍有关。

Objective To investigate the association between apolipoprotein E(ApoE)gene polymorphism and executive function in preschool children with high-functioning autism spectrum disorder(HFA).Methods A total of 215 preschool HFA children with executive dysfunction admitted to Luzhou Psychiatric Hospital from October 2021 to October 2023 were selected as the HFA group,and 142 healthy children who underwent physical examination in the hospital during the same period were selected as the control group.Propensity score matched 2∶1 between HFA group(136 cases)and control group(68 cases).The general data,genotype and allele frequency distribution of ApoE polymorphic loci were compared between the two groups.To analyze the relationship between ApoE gene polymorphism and preschool HFA susceptibility.The executive function of HFA patients with different ApoE gene subtypes was compared,and the relationship between different ApoE gene subtypes and executive function parameters was analyzed by multiple linear regression,as well as the influencing factors of executive dysfunction in HFA children.Resultsε4 was the most common allele in both HFA and control groups,and the risk of HFA was 1.78 times higher inε4 genotype carriers than in non-carriers(P<0.05).The epsilon 4 allele in the allele model significantly increased the risk of executive dysfunction in HFA children(P<0.01).There were significant differences in inhibition,metastasis,affective control,working memory,organizational planning,inhibitory self-control index(ISCI),cognitive flexibility index(FI)and emergent meta cognition index(EMI)among the three groups of ApoE patients(P<0.05).The level of executive dysfunction inε4 patients was higher than that in the other two groups.Inhibition,metastasis,affective control,working memory,organizational planning,ISCI,FI,EMI level,ApoE genotypeε4 were the influential factors of executive dysfunction in children with HFA(P<0.05).Conclusionε4 alleles and high levels of inhibition,transfer,affective control,working memory,organizational planning,ISCI,FI and EMI may be associated with executive dysfunction in preschool children with HFA,and can be used as auxiliary diagnostic indicators for preschool children with HFA.