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Association study of SHANK3 gene polymorphisms with autism in Chinese Han population
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
2009-06-30
DOI10.1186/1471-2350-10-61
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
WOS记录号WOS:000269562800001
项目编号2006AA02Z195 ; 30870897 ; 7081005
资助机构National High Technology Research and Development Program of China ; National Natural Science Foundation of China ; Beijing Municipal Natural Science Foundation
引用统计
被引频次:21[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/55505
专题北京大学精神卫生研究所
北京大学第一临床医学院_妇产科
北京大学精神卫生研究所_精神科
北京大学精神卫生研究所_生化室
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
推荐引用方式
GB/T 7714
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.
APA Qin, Jian.,Jia, Meixiang.,Wang, Lifang.,Lu, Tianlan.,Ruan, Yan.,...&Zhang, Dai.(2009).Association study of SHANK3 gene polymorphisms with autism in Chinese Han population.BMC MEDICAL GENETICS,10.
MLA Qin, Jian,et al."Association study of SHANK3 gene polymorphisms with autism in Chinese Han population".BMC MEDICAL GENETICS 10(2009).
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