Chromatin remodeling gene EZH2 involved in the genetic etiology of   autism in Chinese Han population

doi:10.1016/j.neulet.2015.10.074

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	Chromatin remodeling gene EZH2 involved in the genetic etiology of autism in Chinese Han population
	Li, Jun ; You, Yang ; Yue, Weihua ; Yu, Hao ; Lu, Tianlan ; Wu, Zhiliu ; Jia, Meixiang ; Ruan, Yanyan ; Liu, Jing ; Zhang, Dai ; Wang, Lifang
刊名	NEUROSCIENCE LETTERS
	2016
关键词	Autism EZH2 Chromatin remodeling gene Family-based association test DE-NOVO MUTATIONS SPECTRUM DISORDERS NEURAL DEVELOPMENT ASSOCIATION EXPRESSION METHYLTRANSFERASE DIFFERENTIATION REVEALS CNTNAP2
DOI	10.1016/j.neulet.2015.10.074
英文摘要	Autism spectrum disorder (ASD) is a group of severe neurodevelopmental disorders. Epigenetic factors play a critical role in the etiology of ASD. Enhancer of zest homolog 2 (EZH2), which encodes a histone methyltransferase, plays an important role in the process of chromatin remodeling during neurodevelopment. Further, EZH2 is located in chromosome 7q35-36, which is one of the linkage regions for autism. However, the genetic relationship between autism and EZH2 remains unclear. To investigate the association between EZH2 and autism in Chinese Han population, we performed a family-based association study between autism and three tagged single nucleotide polymorphisms (SNPs) that covered 95.4% of the whole region of EZH2. In the discovery cohort of 239 trios, two SNPs (rs740949 and rs6464926) showed a significant association with autism. To decrease false positive results, we expanded the sample size to 427 trios. A SNP (rs6464926) was significantly associated with autism even after Bonferroni correction (p = 0.008). Haplotype G-T (rs740949 and rs6464926) was a risk factor for autism (Z=2.655, p = 0.008, Global p = 0.024). In silico function prediction for SNPs indicated that these two SNPs might be regulatory SNPs. Expression pattern of EZH2 showed that it is highly expressed in human embryonic brains. In conclusion, our findings demonstrate that EZH2 might contribute to the genetic etiology of autism in Chinese Han population. (C) 2015 Elsevier Ireland Ltd. All rights reserved.; National Natural Science Foundation of China [81471383, 81471360]; Beijing Municipal Science & Technology Commission [Z131107002213100]; SCI(E); PubMed; ARTICLE; ljyuch@bjmu.edu.cn; daizhang@bjmu.edu.cn; lifangwang@bjmu.edu.cn; 182-186; 610
语种	英语
内容类型	期刊论文
源URL	[http://ir.pku.edu.cn/handle/20.500.11897/416912]
专题	生命科学学院心理与认知科学学院
推荐引用方式 GB/T 7714	Li, Jun,You, Yang,Yue, Weihua,et al. Chromatin remodeling gene EZH2 involved in the genetic etiology of autism in Chinese Han population[J]. NEUROSCIENCE LETTERS,2016.
APA	Li, Jun.,You, Yang.,Yue, Weihua.,Yu, Hao.,Lu, Tianlan.,...&Wang, Lifang.(2016).Chromatin remodeling gene EZH2 involved in the genetic etiology of autism in Chinese Han population.NEUROSCIENCE LETTERS.
MLA	Li, Jun,et al."Chromatin remodeling gene EZH2 involved in the genetic etiology of autism in Chinese Han population".NEUROSCIENCE LETTERS (2016).