Shank3基因多态性与汉族儿童孤独症的病例对照研究

A case-control study on Shank3 gene polymorphism and autism in Han children

目的探讨Shank3基因的单核苷酸多态性(SNPs)与汉族儿童孤独症的相关性。方法采用Illumina CNV 370-Duo芯片和Illumina 610芯片对455例孤独症患者(孤独症组)和1 097例无孤独症及相关精神疾病儿童(对照组)的Shank3基因SNPs位点进行基因分型检测,对基因分型数据采用haploview4.1软件进行关联分析。结果Shank3基因的rs736334、rs8137951位点的等位基因频率和rs9616816-rs736334的G-G、A-A及rs715586-rs8137951的G-A单体型频率在两组间的传递比较,差异有统计学意义(P<0.05),但经1 000次模拟置换检验后的结果比较,差异无统计学意义(P>0.05)。结论 Shank3基因与汉族儿童孤独症的致病不存在相关性,Shank3基因可能不是汉族儿童孤独症的易感基因。

Objective To study the correlation between the single nucleotide polymorphisms（SNPs）of Shank3 gene with autism in the Han children.Methods The SNPs loci of Shank3 gene in 455 Han autistic children（autism group）and 1 097 Han children with no autism and related mental illness（control group）were detected by using Illumina CNV 370-Duo and Illumina 610 chips,the genotyping data were performed the association analysis by using the haploview4.1software.Results The transmission of allelic frequency of rs736334 and rs8137951in Shank3 gene and the haplotype frequencies of G-G,A-A in rs9616816-rs736334 and G-A in rs715586-rs8137951 had statistically significant difference between the autism group and the control group（P〈0.05）,but after the replacement of 1 000 times of simulation test,the results was no longer statistically significant（P〉0.05）.Conclusion Shank3 gene has no correlation with the pathogenesis of autism in the Han children.The Shank3 gene may not be the pathogenic gene of autism in Han children.