Shank3基因多态性与汉族儿童孤独症的关联研究

摘要

目的 研究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Il-lumina CNV 370-Duo 芯片对280 个汉族人群孤独症核心家系的 Shank3 基因单核苷酸多态性位点 rs9616816、rs736334、rs2040487、rs6009951、rs715586、rs8137951进行基因分型检测,对基因分型数据采用haploview4. 1软件进行连锁不平衡检测和家系为基础的关联分析( FBAT). 结果 家系为基础的关联分析结果显示Shank3基因的rs715586、rs6009951位点的等位基因和rs715586-rs8137951的G-A,A-G单体型在孤独症中的传递差异具有统计学意义(P＜0. 05),但经1000次模拟的置换检验后不再具有统计学意义(P＞0. 05). 结论 Shank3基因可能不是汉族儿童孤独症的致病基因,至少不是其致病的主效基因.%Objective To investigate the association of single nucleotide polymorphisms ( single nucleotide polymor-phisms,SNPs) of the Shank3 gene with autism in the Chinese Han children. Methods The single nucleotide polymor-phism loci rs9616816 rs736334 rs2040487,rs6009951,rs715586,rs8137951 of the Shank3 gene were genotyped by using Illumina CNV 370-Duo in 280 Chinese Han autistic trios,the linkage disequilibrium and the family based associated test ( FBAT) was performed using genotyping data by haploview4. 1 software. Results The results of the family based associ-ated test(FBAT) demonstrated that the transmission of the allelic rs715586,rs6009951 and the haplotype G-A,A-G of rs715586-rs8137951 in 280 autistic trios had statistical significance (P＜0. 05),but the results had no statistical signifi-cance after the 1000 times permutation(P＞0. 05). Conclusion The Shank3 gene may not be the pathogenic gene of autism in the Chinese Han children,at least not a major susceptibility gene for autism.