MTHFR基因C677T多态性与孤独症患儿问题行为及遗传模式的相关性  

Association of MTHFR gene C677T polymorphism with problem behavior and inheritance pattern among children with autism

作　　者：许诗浩 门爽[1] 王旭龙 张方方 袁向东[1] Xu Shihao;Men Shuang;Wang Xulong;Zhang Fangfang;Yuan Xiangdong(Department of Child Rehabilitation,the First People′s Hospital of Shangqiu,Henan 476100,China)

机构地区：[1]商丘市第一人民医院儿童康复科,河南476100

出　　处：《中华医学遗传学杂志》2022年第8期898-902,共5页Chinese Journal of Medical Genetics

基　　金：河南省科技攻关计划 (LHGJ20191491)。

摘　　要：目的探讨亚甲基四氢叶酸还原酶(methylenetetrahydrofolate reductase,MTHFR)基因C677T多态性与孤独症的相关性。方法选择93例孤独症患儿作为观察组,93例健康儿童作为对照组。检测其MTHFR基因C677T位点的基因型,并分析其与患儿问题行为及遗传模式的相关性。结果MTHFR基因C677T位点具有CC、CT、TT 3种基因型。观察组CC基因型较对照组少,TT基因型较对照组多(P<0.05)。三种多态性中,目光接触、复杂肢体动作、自残行为和过度活跃4种问题行为出现频率存在统计学差异(P<0.05)。回归分析显示存在统计学差异的4种问题行为1与2编码程度的至少有一个T等位基因。MTHFR基因C677T基因型在隐性遗传模型及等位基因遗传模型下与孤独症存在关联(P<0.05)。结论MTHFR基因C677T多态性与孤独症患儿问题行为及遗传相关,基因型为TT或携带T等位基因的患儿发生孤独症的风险高并与目光接触、复杂肢体动作、自残行为和过度活跃1与2编码程度相关。Objective To assess the association of C677T polymorphism of methylenetetrahydrofolate reductase(MTHFR)gene with autistic behavior and inheritance pattern of children patients.Methods Ninety three autism patients were selected as the study group,whilst 93 healthy children were selected as the control group.The C677T genotype of the MTHFR gene was determined,and the correlation between the genotype and the autistic behavior and inheritance pattern were investigated.Results MTHFR gene C677T locus revealed three genotypes CC,CT and TT.Compared with the control group,the study group had fewer CC genotype but more TT genotype(P<0.05).Individuals with the three genotypes showed a statistically significant difference in the frequencies of four problem behaviors(P<0.05).Regression analysis showed that at least one T allele encoding the degree of 1 and 2 for the 4 problem behaviors that were statistically different.MTHFR gene C677T genotype was associated with autism under the recessive inheritance model and allelic inheritance model(P<0.05).Conclusion The C677T polymorphism of the MTHFR gene is associated with autistic behaviors.Children with the TT genotype or T allele are at higher risk of developing autism,particularly direct gaze,complex limb movements,self-injurious behavior and hyperactivity 1 and 2 related with the degree of coding.

关 键 词：孤独症 MTHFR基因 C677T多态性 问题行为 遗传 

分 类 号：R749.94[医药卫生—神经病学与精神病学]