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学科主题: 精神卫生
题名:
Association study of SHANK3 gene polymorphisms with autism in Chinese Han population
作者: Qin, Jian1,2; Jia, Meixiang1,2; Wang, Lifang1,2; Lu, Tianlan1,2; Ruan, Yan1,2; Liu, Jing1; Guo, Yanqing1; Zhang, Jishui3; Yang, Xiaoling1; Yue, Weihua1,2; Zhang, Dai1,2
刊名: BMC MEDICAL GENETICS
发表日期: 2009-06-30
DOI: 10.1186/1471-2350-10-61
卷: 10
收录类别: SCI
文章类型: Article
WOS标题词: Science & Technology
类目[WOS]: Genetics & Heredity
研究领域[WOS]: Genetics & Heredity
关键词[WOS]: POSTSYNAPTIC DENSITY PROTEINS ; SPECTRUM DISORDER ; FAMILY ; SYNAPSE ; MUTATIONS ; NEUROLIGIN ; EXPRESSION ; NLGN3
英文摘要:

Background: Autism, a heterogeneous disease, is described as a genetic psychiatry disorder. Recently, abnormalities at the synapse are supposed to be important for the etiology of autism. SHANK3 (SH3 and multiple ankyrin repeat domains protein) gene encodes a master synaptic scaffolding protein at postsynaptic density (PSD) of excitatory synapse. Rare mutations and copy number variation (CNV) evidence suggested SHANK3 as a strong candidate gene for the pathogenesis of autism.

Methods: We performed an association study between SHANK3 gene polymorphisms and autism in Chinese Han population. We analyzed the association between five single nucleotide polymorphisms (SNPs) of the SHANK3 gene and autism in 305 Chinese Han trios, using the family based association test (FBAT). Linkage disequilibrium (LD) analysis showed the presence of LD between pairwise markers across the locus. We also performed mutation screening for the rare de novo mutations reported previously.

Results: No significant evidence between any SNPs of SHANK3 and autism was observed. We did not detect any mutations described previously in our cohort.

Conclusion: We suggest that SHANK3 might not represent a major susceptibility gene for autism in Chinese Han population.

语种: 英语
所属项目编号: 2006AA02Z195 ; 30870897 ; 7081005
项目资助者: National High Technology Research and Development Program of China ; National Natural Science Foundation of China ; Beijing Municipal Natural Science Foundation
WOS记录号: WOS:000269562800001
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/55505
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 100871, Peoples R China
2.Minist Hlth, Key Lab Mental Hlth, Beijing, Peoples R China
3.Capital Univ Med Sci, Beijing Childrens Hosp, Beijing, Peoples R China

Recommended Citation:
Qin, Jian,Jia, Meixiang,Wang, Lifang,et al. Association study of SHANK3 gene polymorphisms with autism in Chinese Han population[J]. BMC MEDICAL GENETICS,2009,10.
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