Wnt信号通路相关基因多态性与汉族儿童孤独症的关系分析

Relationship between polymorphism of Wnt signaling pathway-related genes and children autism in Han nationality

目的分析Wnt信号通路相关基因多态性(SNP)与汉族儿童孤独症的关系。方法前瞻性选择孝感市中心医院136例汉族孤独症儿童与正常汉族儿童50例作为对照组。采用芯片法检测Wnt信号通路Wnt2、DISCI基因SNPs分型,分析Wnt信号通路Wnt2、DISC1与儿童孤独症发生的关系。结果①Wnt信号通路Wnt2基因、DISC1基因6个位点SNPs分型Hardy-Weiberg P值均>0.05,样本无偏离,符合Hardy-Weiberg平衡;②孤独症组与对照组Wnt信号通路Wnt2基因6个位点及2个完全连锁结构域单体型等位基因频率比较差异无统计学意义(P>0.05);③孤独症组Wnt信号通路DISC1基因6个位点中5个位点(rs4658939、rs2793093、rs10495309、rs11122362、rs1073179)孤独症组等位基因G基因频率均高于对照组(P<0.05)。孤独症组Wnt信号通路DISC1基因连锁结构域rs4658939-rs2793093-rs10495309构成的单体型GGG基因频率低于对照组,连锁结构域2rs9431714-rs1073179构成的单体型GG基因频率高于对照组,差异有统计学意义(P<0.05)。结论Wnt信号通路DISC1基因rs4658939、rs2793093、rs10495309、rs11122362、rs1073179位点及rs4658939-rs2793093-rs10495309构成的单体型GGG、AAA与rs9431714-rs1073179构成的单体型GG均可能与汉族儿童孤独症发生存在关联。

Objective To analyze the relationship between Wnt signaling pathway related-genes polymorphism(SNP)and children autism in Han nationality.Methods A total of 136 autistic children and 50 normal children in Han nationality were selected as controls.The SNPs types of Wnt signaling pathway Wnt2 and DISCI gene were detected by chromatin immunoprecipitation-chip.The relationship between Wnt signaling pathway Wnt2,DISC1 and children autism was analyzed.Results The Hardy-Weiberg P value of SNPs type of 6 loci of Wnt signaling pathway Wnt2 gene and DISC1 gene were more than 0.05.There was no deviation of samples and was consistent with Hardy-Weiberg equilibrium.There was no significant difference in the haplotype allele frequency of 6 loci and 2 complete linkage domains of Wnt signaling pathway Wnt2 gene between autism group and control group(P>0.05).The G gene frequency of 5 loci in the 6 loci of the DISC1 gene(rs4658939,rs2793093,rs10495309,rs11122362,rs1073179)in the autistic group was higher than that in the control group(P<0.05).The haplotype GGG gene frequency of the Wnt signaling pathway DISC1 gene linkage domain rs4658939-rs2793093-rs10495309 was lower than that of the control group,and the haplotype GG gene frequency of the linkage domain 2rs9431714-rs1073179 was higher than that of the control group(P<0.05).Conclusion The haplotypes GGG and AAA composed by rs4658939,rs2793093,rs10495309,rs11122362,rs1073179 loci and rs4658939-rs2793093-rs10495309 of Wnt signaling pathway DISC1 gene,haplotype GG composed by rs9431714-rs1073179 may be associated with the occurrence of children autism in Han nationality.