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Open Access 01-12-2009 | Research article

Association study of SHANK3 gene polymorphisms with autism in Chinese Han population

Authors: Jian Qin, Meixiang Jia, Lifang Wang, Tianlan Lu, Yan Ruan, Jing Liu, Yanqing Guo, Jishui Zhang, Xiaoling Yang, Weihua Yue, Dai Zhang

Published in: BMC Medical Genetics | Issue 1/2009

Abstract

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.

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The pre-publication history for this paper can be accessed here:http://www.biomedcentral.com/1471-2350/10/61/prepub

Title: Association study of SHANK3 gene polymorphisms with autism in Chinese Han population
Authors: Jian Qin
Meixiang Jia
Lifang Wang
Tianlan Lu
Yan Ruan
Jing Liu
Yanqing Guo
Jishui Zhang
Xiaoling Yang
Weihua Yue
Dai Zhang
Publication date: 01-12-2009
Publisher: BioMed Central
Published in: BMC Medical Genetics / Issue 1/2009
Electronic ISSN: 1471-2350
DOI: https://doi.org/10.1186/1471-2350-10-61

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Association study of SHANK3 gene polymorphisms with autism in Chinese Han population

Abstract

Background

Methods

Results

Conclusion

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Background

Methods

Results

Conclusion

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