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学科主题: 精神卫生
题名:
Association study between genes in Reelin signaling pathway and autism identifies DAB1 as a susceptibility gene in a Chinese Han population
作者: Li, Jun1,2; Liu, Jing1,2; Zhao, Linnan1,2; Ma, Yuanlin1,2; Jia, Meixiang1,2; Lu, Tianlan1,2; Ruan, Yanyan1,2; Li, Qizhai3; Yue, Weihua1,2; Zhang, Dai1,2,4; Wang, Lifang1,2
关键词: Autism ; Family-based association test (FBAT) ; Pathway ; Reelin (RELN)
刊名: PROGRESS IN NEURO-PSYCHOPHARMACOLOGY & BIOLOGICAL PSYCHIATRY
发表日期: 2013-07-01
DOI: 10.1016/j.pnpbp.2013.01.004
卷: 44, 页:226-232
收录类别: SCI
文章类型: Article
WOS标题词: Science & Technology
类目[WOS]: Clinical Neurology ; Neurosciences ; Pharmacology & Pharmacy ; Psychiatry
研究领域[WOS]: Neurosciences & Neurology ; Pharmacology & Pharmacy ; Psychiatry
关键词[WOS]: SCRAMBLER MUTANT MICE ; APOE RECEPTOR 2 ; SPECTRUM DISORDER ; BRAIN-DEVELOPMENT ; TYROSINE PHOSPHORYLATION ; NEURONAL MIGRATION ; CORTICAL DEVELOPMENT ; BIPOLAR DISORDER ; CANDIDATE GENE ; VLDL RECEPTOR
英文摘要:

Autism is a pervasive neurodevelopmental disorder diagnosed in early childhood. The genetic factors might play an important role in its pathogenesis. Previous studies revealed that Reelin (RELN) polymorphisms were associated with autism. However, the roles of genes in Reelin signaling pathway for autism are largely unknown. As several knockout mice models in which the Reelin pathway genes (i.e. DAB1, VLDLR/APOER2, FYN/SRC and CRK/CRKL) are deficient have the similar phenotype as the reeler mice (Reelin(-/-)), we hypothesized that the Reelin signaling pathway genes might play roles in the etiology of autism. Therefore, we conducted a family-based association study. Sixty-two tagged single nucleotide polymorphisms (SNPs) covering 15 genes in Reelin pathway were genotyped in 239 trios, and 14 significant SNPs were further investigated in the additional 188 trios. In the total 427 trios, we found significant genetic association between autism and four SNPs in DAB1 (rs12035887 G: p=0.0006; rs3738556 G: p=0.0044; rs1202773 A: p=0.0048; rs12740765 T: p=0.0196). After the Bonferroni correction, SNP rs12035887 remained significant. Furthermore, the haplotype constructed with rs1202773 and rs12023109 in DAB1 showed significant excess transmission in both individual and global haplotype analyses (p=0.0052 and 0.0279, respectively). Our findings suggested that variations in DAB1 involved in the Reelin signaling pathway might contribute to genetic susceptibility to autism with Chinese Han decent, supporting the defect in the Reelin signaling pathway as a predisposition factor for autism. (C) 2013 Elsevier Inc. All rights reserved.

语种: 英语
所属项目编号: 2010CB833905 ; 30870897 ; 81071110 ; 61134013
项目资助者: National Basic Research Development Program of China (973 program) ; National Natural Science Foundation
WOS记录号: WOS:000320297400030
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/61977
Appears in Collections:北京大学精神卫生研究所_期刊论文

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作者单位: 1.Peking Univ, Inst Mental Hlth, Beijing 100191, Peoples R China
2.Peking Tsinghua Ctr Life Sci, Beijing, Peoples R China
3.Peking Univ, Minist Hlth, Key Lab Mental Hlth, Beijing 100191, Peoples R China
4.Chinese Acad Sci, Acad Math & Syst Sci, Beijing, Peoples R China

Recommended Citation:
Li, Jun,Liu, Jing,Zhao, Linnan,et al. Association study between genes in Reelin signaling pathway and autism identifies DAB1 as a susceptibility gene in a Chinese Han population[J]. PROGRESS IN NEURO-PSYCHOPHARMACOLOGY & BIOLOGICAL PSYCHIATRY,2013,44:226-232.
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