儿童孤独症谱系障碍DLGAP1基因多态性研究

发布时间：2017-12-27 12:28

本文关键词：儿童孤独症谱系障碍DLGAP1基因多态性研究　出处：《中国实用儿科杂志》2016年10期 　论文类型：期刊论文

【摘要】：目的分析Disks大同源物关联蛋白1(DLGAP1)基因在儿童孤独症谱系障碍(ASD)中的遗传多态性特征。方法上海交通大学医学院附属上海儿童医学中心2014年7月至2014年9月采用Affymetrix Cyto Scan基因芯片,对ASD儿童24例和非ASD儿童43例DLGAP1基因的297个单核苷酸多态性(SNP)进行病例-对照分析。两组资料进行多种模型(等位基因关联检验,基因型关联检验包括基因型模式、趋势模型、显性模型、隐性模型和Logistic回归)分析。结果 ASD组共发现20个有统计学意义的SNP。其中9个SNP在各模型中均有ASD发生风险,连锁不平衡分析显示rs9956191和rs4797127(D’=0.93,LOD=17.08,r~2=0.722)及rs4797180和rs8091193(D’=1.0,LOD=14.82,r~2=0.0933)呈强连锁不平衡。进一步的单体型分析表明,rs9956191/rs4797127(T-G)为ASD的发生风险(置换检验P=0.036)。该单体型是美国《精神障碍诊断与统计手册》第5版(DSM-Ⅴ)标准中社会情感互动缺陷,社交互动的非言语沟通行为缺陷,发展、维持和理解人际关系缺陷,刻板重复动作或语言,过分坚持常规或仪式化动作,过分狭窄或固定的兴趣6个条目发生风险因素,而不是感知觉异常的发生风险因素。结论 DLGAP1的遗传变异可能在ASD发病中具有一定作用。
[Abstract]:Objective to analyze the genetic polymorphisms of Disks Datong source related protein 1 (DLGAP1) gene in children with autism spectrum disorder (ASD). Methods the Affymetrix Cyto Scan gene chip was used in Shanghai Children's Medical Center of Shanghai Jiaotong University School of Medicine from July 2014 to September 2014, and 297 single nucleotide polymorphisms (SNP) of DLGAP1 gene in 24 ASD children and 43 non ASD children were analyzed by case control analysis. Two sets of data were analyzed by multiple models (allelic association test, genotype correlation test, including genotype mode, trend model, dominant model, recessive model and Logistic regression). Results 20 statistically significant SNP were found in group ASD. 9 SNP had ASD risk in each model. Linkage disequilibrium analysis showed strong linkage disequilibrium between rs9956191 and rs4797127 (D '=0.93, LOD=17.08, r~2=0.722) and rs4797180 and rs8091193. Further haplotype analysis showed that rs9956191/rs4797127 (T-G) was the risk of ASD (replacement test P=0.036). The haplotype is "America" mental disorders in the diagnostic and Statistical Manual Fifth Edition (DSM- V) social emotional interaction defect standard, nonverbal communication behavior defects in social interaction, development, maintenance and understanding of interpersonal relationship defects, stereotyped repetitive movements or language, overpress routine or ritual action, risk factors or too narrow fixed interest 6 items, rather than the perception of risk factors for the occurrence of abnormal. Conclusion the genetic variation of DLGAP1 may play a role in the pathogenesis of ASD.
【作者单位】：上海交通大学医学院附属上海儿童医学中心发育行为儿科;
【基金】：上海市浦东新区科技发展基金(PKJ2013-Y63)
【分类号】：R749.94
【正文快照】： Disks大同源物关联蛋白(DLGAP)基因最新发现与孤独症谱系障碍(ASD)有关[1-2]。而以往的报道表明,DLGAP1主要和强迫障碍及阿尔茨海默病相关[3-4]。基于ASD与强迫障碍和阿尔茨海默病有相似临床表型的事实及后两者与DLGAP1的相关研究,提示DLGAP1可能是ASD的发病危险因素。国内外

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