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Journal of Zhejiang University-SCIENCE B (Biomedicine & Biotechnology)  2014, Vol. 15 Issue (3): 264-271    DOI: 10.1631/jzus.B1300133
Articles     
Family-based association study of ZNF533, DOCK4 and IMMP2L gene polymorphisms linked to autism in a northeastern Chinese Han population
Shuang Liang, Xue-lai Wang, Ming-yang Zou, Han Wang, Xue Zhou, Cai-hong Sun, Wei Xia, Li-jie Wu, Takashi X. Fujisawa, Akemi Tomoda
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
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Abstract  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: χ2=4.5200, P=0.0335; rs1964081: χ2=4.2610, P=0.0390) and the SNP of DOCK4 gene (rs2217262: χ2=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.

Key wordsAutism      ZNF533      DOCK4      IMMP2L      Northeastern Chinese Han population      Single-nucleotide polymorphism     
Received: 08 May 2013      Published: 04 March 2014
CLC:  R179  
Cite this article:

Shuang Liang, Xue-lai Wang, Ming-yang Zou, Han Wang, Xue Zhou, Cai-hong Sun, Wei Xia, Li-jie Wu, Takashi X. Fujisawa, Akemi Tomoda. Family-based association study of ZNF533, DOCK4 and IMMP2L gene polymorphisms linked to autism in a northeastern Chinese Han population. Journal of Zhejiang University-SCIENCE B (Biomedicine & Biotechnology), 2014, 15(3): 264-271.

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http://www.zjujournals.com/xueshu/zjus-b/10.1631/jzus.B1300133     OR     http://www.zjujournals.com/xueshu/zjus-b/Y2014/V15/I3/264

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