基于家系的关联研究显示 ZNF533、DOCK4 和 IMMP2L 基因多态性与中国东北地区汉族人群的自闭症相关联。
Family-based association study of ZNF533, DOCK4 and IMMP2L gene polymorphisms linked to autism in a northeastern Chinese Han population.
机构信息
Department of Children's and Adolescent Health, Public Health College of Harbin Medical University, Harbin 150081, China; Research Center for Child Mental Development, University of Fukui, 23-3 Matsuoka-Shimoaizuki, Eiheiji-cho, Fukui 910-1193, Japan.
出版信息
J Zhejiang Univ Sci B. 2014 Mar;15(3):264-71. doi: 10.1631/jzus.B1300133.
OBJECTIVE
A study in a Caucasian population has identified two single-nucleotide polymorphisms (SNPs) in ZNF533, one in DOCK4, and two in IMMP2L, which were all significantly associated with autism. They are located in AUTS1 and AUTS5, which have been identified as autism susceptibility loci in several genome-wide screens. The present study aimed to investigate whether ZNF533, DOCK4, and IMMP2L genes are also associated with autism in a northeastern Chinese Han population.
METHODS
We performed a similar association study using families with three individuals (one autistic child and two unaffected parents). A family-based transmission disequilibrium test (TDT) was used to analyze the results.
RESULTS
There were significant associations between autism and the two SNPs of ZNF533 gene (rs11885327: χ(2)=4.5200, P=0.0335; rs1964081: χ(2)=4.2610, P=0.0390) and the SNP of DOCK4 gene (rs2217262: χ(2)=5.3430, P=0.0208).
CONCLUSIONS
Our data suggest that ZNF533 and DOCK4 genes are linked to a predisposition to autism in the northeastern Chinese Han population.
目的
一项针对白种人群的研究发现，ZNF533 中有两个单核苷酸多态性（SNP），DOCK4 中有一个 SNP，IMMP2L 中有两个 SNP，这些 SNP 均与自闭症显著相关。这些 SNP 位于 AUTS1 和 AUTS5 中，这两个区域已在多个全基因组筛查中被确定为自闭症易感区域。本研究旨在探讨 ZNF533、DOCK4 和 IMMP2L 基因是否也与中国东北地区汉族人群的自闭症有关。
方法
我们使用有三个个体（一个自闭症儿童和两个无自闭症父母）的家系进行了类似的关联研究。采用基于家系的传递不平衡检验（TDT）分析结果。
结果
自闭症与 ZNF533 基因的两个 SNP（rs11885327：χ(2)=4.5200，P=0.0335；rs1964081：χ(2)=4.2610，P=0.0390）和 DOCK4 基因的 SNP（rs2217262：χ(2)=5.3430，P=0.0208）之间存在显著关联。
结论
我们的数据表明，ZNF533 和 DOCK4 基因与中国东北地区汉族人群的自闭症易感性有关。
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