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. 2014 Mar;15(3):264-71.
doi: 10.1631/jzus.B1300133.

Family-based association study of ZNF533, DOCK4 and IMMP2L gene polymorphisms linked to autism in a northeastern Chinese Han population

Shuang Liang  1 , Xue-lai Wang, Ming-yang Zou, Han Wang, Xue Zhou, Cai-hong Sun, Wei Xia, Li-jie Wu, Takashi X Fujisawa, Akemi Tomoda
Affiliations

Family-based association study of ZNF533, DOCK4 and IMMP2L gene polymorphisms linked to autism in a northeastern Chinese Han population

Shuang Liang et al. J Zhejiang Univ Sci B. 2014 Mar.

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: 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.

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Conflict of interest statement

Compliance with ethics guidelines: Shuang LIANG, Xue-lai WANG, Ming-yang ZOU, Han WANG, Xue ZHOU, Cai-hong SUN, Wei XIA, Li-jie WU, Takashi X. FUJISAWA, and Akemi TOMODA declare that they have no conflict of interest.

All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2008 (5). Informed consent was obtained from all patients for being included in the study. Additional informed consent was obtained from all patients for which identifying information is included in this article.

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