Shank3基因多态性与汉族儿童孤独症的关联研究

Association Study of Shank3 Gene Polymorphism with Autism in the Chinese Han Children

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Illumina 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 HaM 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 〈 O. 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.