Research article

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

Jian Qin^1,2* , Meixiang Jia^1,2* , Lifang Wang^1,2 , Tianlan Lu^1,2 , Yan Ruan^1,2 , Jing Liu¹ , Yanqing Guo¹ , Jishui Zhang³ , Xiaoling Yang¹ , Weihua Yue^1,2 and Dai Zhang^1,2

¹  Institute of Mental Health, Peking University, Beijing, PR China

²  Key Laboratory for Mental Health, Ministry of Health, Beijing, PR China

³  Beijing Children's Hospital Affiliated to Capital University of Medical Sciences, Beijing, PR China

author email corresponding author email* Contributed equally

BMC Medical Genetics 2009, 10:61doi:10.1186/1471-2350-10-61

Published:	30 June 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.