Association study of SHANK3 gene polymorphisms with autism in Chinese Han population.
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.
Qin
Jian
J
Institute of Mental Health, Peking University, Beijing, PR China. jianqin@bjmu.edu.cn
Jia
Meixiang
M
Wang
Lifang
L
Lu
Tianlan
T
Ruan
Yan
Y
Liu
Jing
J
Guo
Yanqing
Y
Zhang
Jishui
J
Yang
Xiaoling
X
Yue
Weihua
W
Zhang
Dai
D
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
D002352:Carrier Proteins; D009419:Nerve Tissue Proteins; C492357:SHANK3 protein, human