title: Association study of SHANK3 gene polymorphisms with autism in Chinese Han population.
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.
  
  
  CONCLUSIONS
  We suggest that SHANK3 might not represent a major susceptibility gene for autism in Chinese Han population.
authors: Institute of Mental Health, Peking University, Beijing, PR China. jianqin@bjmu.edu.cn
authors: Jian
authors: J
authors: Qin
authors: Meixiang
authors: M
authors: Jia
authors: Lifang
authors: L
authors: Wang
authors: Tianlan
authors: T
authors: Lu
authors: Yan
authors: Y
authors: Ruan
authors: Jing
authors: J
authors: Liu
authors: Yanqing
authors: Y
authors: Guo
authors: Jishui
authors: J
authors: Zhang
authors: Xiaoling
authors: X
authors: Yang
authors: Weihua
authors: W
authors: Yue
authors: Dai
authors: D
authors: Zhang
mesh_terms: D000293:Adolescent; D000328:Adult; D000483:Alleles; D044466:Asian People; D001321:Autistic Disorder / Q000235:genetics*; D002352:Carrier Proteins / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D002681:China; D004252:DNA Mutational Analysis; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study; D006801:Humans; D015810:Linkage Disequilibrium; D008297:Male; D009419:Nerve Tissue Proteins; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide; D055815:Young Adult
chemical_list: D002352:Carrier Proteins; D009419:Nerve Tissue Proteins; C492357:SHANK3 protein, human