JZUS - Journal of Zhejiang University SCIENCE

Journal of Zhejiang University SCIENCE B 2014 Vol.15 No.3 P.264-271

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

Author(s): Shuang Liang¹, Xue-lai Wang¹, Ming-yang Zou¹, Han Wang¹, Xue Zhou¹, Cai-hong Sun¹, Wei Xia¹, Li-jie Wu¹, Takashi X. Fujisawa², Akemi Tomoda²
Affiliation(s): 1. Department of Childrens and Adolescent Health, Public Health College of Harbin Medical University, Harbin 150081, China; more
Corresponding email(s): liangyouyou2004@163.com
Key Words: Autism, ZNF533 , DOCK4 , IMMP2L , Northeastern Chinese Han population, Single-nucleotide polymorphism

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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[J]. Journal of Zhejiang University Science B, 2014, 15(3): 264-271.

@article{title="Family-based association study of ZNF533, DOCK4 and IMMP2L gene polymorphisms linked to autism in a northeastern Chinese Han population",
author="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",
journal="Journal of Zhejiang University Science B",
volume="15",
number="3",
pages="264-271",
year="2014",
publisher="Zhejiang University Press & Springer",
doi="10.1631/jzus.B1300133"
}

%0 Journal Article
%T Family-based association study of ZNF533, DOCK4 and IMMP2L gene polymorphisms linked to autism in a northeastern Chinese Han population
%A Shuang Liang
%A Xue-lai Wang
%A Ming-yang Zou
%A Han Wang
%A Xue Zhou
%A Cai-hong Sun
%A Wei Xia
%A Li-jie Wu
%A Takashi X. Fujisawa
%A Akemi Tomoda
%J Journal of Zhejiang University SCIENCE B
%V 15
%N 3
%P 264-271
%@ 1673-1581
%D 2014
%I Zhejiang University Press & Springer
%DOI 10.1631/jzus.B1300133

TY - JOUR
T1 - Family-based association study of ZNF533, DOCK4 and IMMP2L gene polymorphisms linked to autism in a northeastern Chinese Han population
A1 - Shuang Liang
A1 - Xue-lai Wang
A1 - Ming-yang Zou
A1 - Han Wang
A1 - Xue Zhou
A1 - Cai-hong Sun
A1 - Wei Xia
A1 - Li-jie Wu
A1 - Takashi X. Fujisawa
A1 - Akemi Tomoda
J0 - Journal of Zhejiang University Science B
VL - 15
IS - 3
SP - 264
EP - 271
%@ 1673-1581
Y1 - 2014
PB - Zhejiang University Press & Springer
ER -
DOI - 10.1631/jzus.B1300133

Abstract
Chinese Summary
Academic Network
Reviewer Comment

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.

ZNF533、DOCK4和IMMP2L基因多态性与中国东北汉族孤独症的关联研究

研究目的：ZNF533、DOCK4和IMMP2L在大脑发育过程中起到非常重要的作用，是孤独症研究的候选基因。高加索人群的研究结果发现，ZNF533、DOCK4和IMMP2L基因的5个单核苷酸多态性（SNP）位点与孤独症高度相关。为了探讨上述位点是否与中国孤独症发生相关，我们开展了东北汉族孤独症的核心家系研究。
创新要点：孤独症候选基因多态位点的研究结果通常很难得到重复。本研究首次在中国东北汉族人群中验证了与高加索人群孤独症密切相关的候选位点。这一结果对孤独症的研究具有重要指导意义。
研究方法：利用SNaPshot的方法，检测了中国东北汉族370个核心家系中ZNF533（rs11885327、rs1964081）、DOCK4（rs2217262）和IMMP2L（rs12537269、rs1528039）的分布情况，利用传递不平衡检验（TDT）分析了这些多态位点与孤独症发生的相关性。
重要结论：ZNF533和DOCK4基因多态性与中国北方汉族孤独症发生存在显著关联。

关键词：孤独症；ZNF533；DOCK4；IMMP2L；中国东北汉族；单核苷酸多态性

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ZNF533、DOCK4和IMMP2L基因多态性与中国东北汉族孤独症的关联研究

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