摘要
【目的】探讨结节性硬化症(tuberous sclerosis complex,TSC)相关基因TSC1、TSC2基因多态性与儿童孤独症之间的关联。【方法】利用SNaPshot基因分型技术,在97例孤独症核心家系中,对TSC1、TSC2基因上的8个标签SNP,即rs3761840、rs2809244、rs1050700、rs739441、rs2074968、rs2074969、rs2072314、rs8063461进行分型;通过FBAT软件及Haploview软件进行基于家系的单倍型分析。【结果】1)基于家系的关联分析发现8个SNPs等位基因中有2个SNPs的等位基因倾向于过传递(rs1050700A:Z=2.708,P=0.006769;rs2074968G:Z=3.244,P=0.001180),并且经过FDR校正后,2个SNPs仍显示出与孤独症之间存在显著关联性(校正P值分别为0.027,0.014)。2)rs3761840-rs2809244基因型的单体型A-C显示出显著的传递不平衡,双亲较少传递给子女(Z=-2.297,P=0.021629)。rs2074968-rs2072314基因型的2种单体型即G-C及C-C均显示出显著的传递不平衡,单体型G-C能从双亲过传递给子女(Z=2.596,P=0.009444),单体型C-C则相反(Z=-3.657,P=0.000256)。【结论】TSC1、TSC2基因可能与儿童孤独症的发生存在关联。
[Objective] To explore the characteristics of TSC1 and TSC2 genes polymorphisms in children with autism. [Methods] Eight tag single nucleotide polymorphisms （SNPs） were genotyped inTSC1 and TSC2 genes, from 97 autistic trios using SNaPshot technique. Single SNP haplotype association analysis were performed using the family-based association test （FBAT） and Haploview software. [Resluts] 1）In a family-based association test,two SNPs showed significant associations with autism （rs1050700 A..Z=2. 708,P=0. 006769;rs2074968 G：Z=3. 244,P=0. 001180）. After the FDR correction, they all remained significant. 2） Haplotype association analysis showed that three haplotypes, G-C （rs2074968-rs2072314） ,A-C（rs3761840-rs2809244） ,C-C（rs2074968-rs2072314）displayed the significant associations with autism. [Conclusions] The SNPs of TSC1 and TSC2 genes might be the susceptive genes in autism. It suggested that these genes polymorphisms might play the important roles in the pathogenesis of autism.
出处
《中国儿童保健杂志》
CAS
北大核心
2013年第6期571-574,共4页
Chinese Journal of Child Health Care
基金
国家重点基础研究发展计划(973)(2010CB529602)
上海市科委重点项目(11411952401)
上海市新三年计划项目(GWIII-32)
