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学科主题: 精神卫生
题名:
Evidence for association between Disrupted-in-schizophrenia 1 (DISC1) gene polymorphisms and autism in Chinese Han population: a family-based association study
作者: Zheng, Fanfan1,2; Wang, Lifang1,2; Jia, Meixiang2; Yue, Weihua1,2; Ruan, Yan1,2; Lu, Tianlan1,2; Liu, Jing2; Li, Jun1,2; Zhang, Dai1,2
关键词: DISC1 autism ; SNP ; FBAT ; association study
刊名: BEHAVIORAL AND BRAIN FUNCTIONS
发表日期: 2011-05-15
DOI: 10.1186/1744-9081-7-14
卷: 7
收录类别: SCI
文章类型: Article
WOS标题词: Science & Technology
类目[WOS]: Behavioral Sciences ; Neurosciences
研究领域[WOS]: Behavioral Sciences ; Neurosciences & Neurology
关键词[WOS]: ADULT BRAIN ; SPECTRUM DISORDERS ; NEURITE OUTGROWTH ; MOTOR TASK ; DISRUPTED-IN-SCHIZOPHRENIA-1 ; RISK ; TWIN ; TRANSLOCATION ; PROTEIN ; CORTEX
英文摘要:

Background: Disrupted-in-Schizophrenia 1 (DISC1) gene is one of the most promising candidate genes for major mental disorders. In a previous study, a Finnish group demonstrated that DISC1 polymorphisms were associated with autism and Asperger syndrome. However, the results were not replicated in Korean population. To determine whether DISC1 is associated with autism in Chinese Han population, we performed a family-based association study between DISC1 polymorphisms and autism.

Methods: We genotyped seven tag single nucleotide polymorphisms (SNPs) in DISC1, spanning 338 kb, in 367 autism trios (singleton and their biological parents) including 1,101 individuals. Single SNP association and haplotype association analysis were performed using the family-based association test (FBAT) and Haploview software.

Results: We found three SNPs showed significant associations with autism (rs4366301: G > C, Z = 2.872, p = 0.004; rs11585959: T > C, Z = 2.199, p = 0.028; rs6668845: A > G, Z = 2.326, p = 0.02). After the Bonferroni correction, SNP rs4366301, which located in the first intron of DISC1, remained significant. When haplotype were constructed with two-markers, three haplotypes displayed significant association with autism. These results were still significant after using the permutation method to obtain empirical p values.

Conclusions: Our study provided evidence that the DISC1 may be the susceptibility gene of autism. It suggested DISC1 might play a role in the pathogenesis of autism.

语种: 英语
所属项目编号: 2010CB833905 ; 30870897 ; 81071110 ; 7081005
项目资助者: National High Technology Research and Development Program of China ; National Natural Science Foundation of China ; Beijing Natural Science Foundation
WOS记录号: WOS:000291648600001
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/61052
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.Minist Hlth, Key Lab Mental Hlth, Beijing, Peoples R China
2.Peking Univ, Inst Mental Hlth, Beijing 100871, Peoples R China

Recommended Citation:
Zheng, Fanfan,Wang, Lifang,Jia, Meixiang,et al. Evidence for association between Disrupted-in-schizophrenia 1 (DISC1) gene polymorphisms and autism in Chinese Han population: a family-based association study[J]. BEHAVIORAL AND BRAIN FUNCTIONS,2011,7.
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