摘要
目的:探究突触关联蛋白-25(SNAP-25)、突触融合蛋白-1A(STX1A)基因多态性与小儿注意缺陷多动障碍(ADHD)易感性的关系及交互作用。方法:将我院2020年6月到2022年4月门诊就诊的98例ADHD患儿纳入观察组,同期健康体检儿童65例作为对照组。采集研究对象外周静脉血3 ml,采用聚合酶链式反应(PCR)-限制性片段长度多态性法(RFLP)对SNAP-25基因位点(rs3746544)、STX1A基因位点(rs2228607、rs875342)进行分型,比较两组研究对象一般资料、ADHD筛查量表(SNAP-IV)评分、SNAP-25与STX1A基因型及等位基因分布,采用二元Logistic回归模型分析SNAP-25、STX1A基因多态性与ADHD易感性的关联性及交互作用。结果:观察组患儿SNAP-IV中的注意缺陷、多动/冲动评分及平均分均高于对照组(P<0.05);SNAP-2 rs3746544位点携带T/T基因型的儿童多动/冲动评分及平均分均高于G/G、G/T基因型儿童(P<0.05),STX1A rs2228607与rs875342位点携带A/A基因型的儿童注意缺陷评分及平均分均高于G/G、A/G基因型儿童(P<0.05);SNAP-25 rs3746544位点上携带T等位基因及STX1A rs2228607、rs875342位点上携带A等位基因可增加小儿ADHD患病风险(P<0.05);交互携带rs3746544位点GT/TT基因型、rs2228607与rs875342位点GA/AA基因型的小儿ADHD患病风险高于交互携带GG基因型者(P<0.05)。结论:SNAP-25 rs3746544位点与STX1A rs2228607、rs875342位点的突变基因均可增加小儿ADHD易感性,且两基因及不同位点间存在交互作用,共同参与ADHD的发生、发展过程。
Objective: To explore the relationship between gene polymorphisms of synaptosomal-associated protein of 25 kda(SNAP-25) and syntaxin-1A(STX1A) and susceptibility of children with attention deficit hyperactivity disorder(ADHD) and analyze their interaction effects. Methods: 98 children with ADHD seen in the outpatient clinic from June 2020 to April 2022 were included in the observation group, and 65 healthy children undergoing physical examination in the hospital during the same period were enrolled as the control group. 3 ml of peripheral venous blood was collected from the research subjects, and the SNAP-25 gene loci(rs3746544) and STX1A gene loci(rs2228607, rs875342) were genotyped by polymerase chain reaction(PCR)-restriction fragment length polymorphism(RFLP). General data, Swanson, Nolan and Pelham-IV rating scale(SNAP-IV) scores and distribution of genotypes and alleles of SNAP-25 and STX1A were compared between the two groups. Binary Logistic regression model was used to analyze the association and interaction effects between gene polymorphisms of SNAP-25 and STX1A and ADHD susceptibility. Results: The scores of attention deficit and hyperactivity/impulsivity and average score of SNAP-IV in the observation group were higher than those in the control group(P<0.05). The hyperactivity/impulsivity score and average score of children carrying T/T genotype at rs3746544 locus of SNAP-2 gene were higher compared with those of children carrying G/G genotype or G/T genotype(P<0.05). The attention deficit score and average score of children carrying A/A genotype at rs2228607 and rs875342 loci of STX1A gene were higher than those of children carrying G/G and A/G genotypes(P<0.05). T allele at SNAP-25 rs3746544 locus and A allele at STX1A rs2228607 and rs875342 locus could increase the risk of ADHD in children(P<0.05). The risk of ADHD in children with GT/TT genotype of rs3746544 locus, GA/AA genotype of rs2228607 and rs875342 locus was higher than that in children with GG genotype(P<0.05). Conclusion: Both SNAP-25 and STX1A are ADHD susceptibility genes. Mutant genes at SNAP-25 rs3746544 locus and STX1A rs3746544 and rs875342 loci can increase the risk of ADHD in children, and there is an interaction effect between the different loci SNAP-25 gene and STX1A gene, and the two genes jointly participate in the occurrence and development of ADHD.
作者
郑芳
国志
ZHENG Fang;GUO Zhi(Department of Paediatrics,the Sixth People's Hospital Affiliated to Shanghai Jiaotong University,Shanghai 210306,China)
出处
《现代医学》
2023年第1期24-31,共8页
Modern Medical Journal
关键词
小儿注意缺陷多动障碍
突触关联蛋白-25
突触融合蛋白-1A
基因多态性
易感性
交互作用
attention deficit hyperactivity disorder in children
synaptosomal-associated protein of 25 kda
syntaxin-1A
gene polymorphism
susceptibility
interaction effects
作者简介
郑芳(1980-),女,上海人,主治医师。E-mail:xf15618218662@163.com;通信作者:国志,E-mail:xiaoguo637@163.com
