摘要目的 探讨雷帕霉素靶蛋白(mTOR)信号通路基因家族中PTEN基因的单核苷酸多态性(SNP)与儿童孤独症之间的关联.方法 选取2011年5月至2012年12月在上海交通大学医学院附属精神卫生中心儿童与青少年精神科门诊就诊的孤独症核心家系97例,通过基于家系的关联研究软件及Haploview软件进行基于家系的单位点关联分析和单倍型分析,分析上述标签SNP与儿童孤独症之间的关联.结果 1.基于家系的关联分析发现5个SNPs等位基因中有2个SNPs的等位基因倾向于过传递(rs17107001 G:Z=2.982 P=0.003;rs2299941 G:Z =2.524,P=0.012),并且经过错误控制法校正后,2个SNPs仍显示出与孤独症之间存在显著关联性.2.单倍型分析结果发现LD区块rs532678-rs 17562384-rs2299941(block2)构建的单体型T-T-G,C-T-A显示出显著的传递不平衡,单体型T-T-G能从双亲过传递给子女(Z =2.986,P =0.003),单体型C-T-A则相反(Z=-2.197,P=0.028).结论 PTEN基因可能与儿童孤独症的发生存在关联.

abstractsObjective To explore the correlation of single nucleotide polymorphism (SNP) with PTEN gene involving in mammalian target of rapamycin (mTOR) C1 signaling genes polymorphisms and autism in children.Methods A total of 97 cases with autism were enrolled from Mar.2011 to Dec.2012 in this study,who came from the child and adolescent out-patient department in Shanghai Mental Health Center of Shanghai Jiaotong University School of Medicine.Single SNP association and haplotype association analysis were performed using the family-based association test and Haploview software.Results 1.In a family-based association test,two SNPs showed significant association with autism(rs17107001 G:Z =2.982,P =0.003 ; rs2299941 G:Z =2.524,P =0.012).After the correction of false discovery rate,they all remained significant.2.Haplotype association analysis showed significant transmission disequilibrium in haplotype T-T-G and C-T-A generated from rs532678-rs17562384-rs2299941 (block2) in LD Block,and haplotype T-T-G was over transmitted to offspring(Z =-2.986,P =0.003) while haplotype C-T-A was the opposite (Z =-2.197,P =0.028).Conclusion The SNPs of PTEN genes might have a correlation with autism in children.