title: A commonly carried genetic variant, rs9616915, in SHANK3 gene is associated with a reduced risk of autism spectrum disorder: replication in a Chinese population.
abstract: Autism spectrum disorder (ASD) is one of neurodevelopmental disorders with highly heritability. Recently, abnormality at the synapse is found to be important etiology of ASD. SHANK3 gene is suggested as a strong candidate gene for the pathogenesis of ASD, because it is essential for normally synaptic structure and function. We performed a case-control study to identify association between rs9616915 of the SHANK3 gene and ASD in a Chinese population. Genomic DNA was extracted from oral swabs samples of 212 patients and 636 controls and the SNP genotypes were determined by a polymerase chain reaction-restriction fragment length polymerase assay. Significant difference in genotype distribution of rs9616915 was observed between cases and controls by Pearson's χ(2) test (χ(2) = 6.92, P = 0.031). Genetic analysis of heterozygous model, dominant model and additive model showed an association of the C allele of the rs9616915 with ASD (e.g., additive model, OR 0.582, 95% CI 0.359-0.942, P = 0.028). In conclusion, our results suggested that this commonly genetic variant in SHANK3 gene strikingly decreased the risk of ASD in China.
authors.affiliation: Department of Maternal and Child Health and MOE (Ministry of Education), Key Laboratory of Environment & Health, School of Public Health, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430030, China.
authors.forename: Shanshan
authors.initials: S
authors.lastname: Shao
authors.forename: Sanqing
authors.initials: S
authors.lastname: Xu
authors.forename: Jun
authors.initials: J
authors.lastname: Yang
authors.forename: Ti
authors.initials: T
authors.lastname: Zhang
authors.forename: Zhen
authors.initials: Z
authors.lastname: He
authors.forename: Zhao
authors.initials: Z
authors.lastname: Sun
authors.forename: Ranran
authors.initials: R
authors.lastname: Song
mesh_terms: D000368:Aged; D044466:Asian People / Q000235:genetics; D016022:Case-Control Studies; D002659:Child Development Disorders, Pervasive / Q000235:genetics*; D002675:Child, Preschool; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D005828:Genetics, Population; D006801:Humans; D008297:Male; D008875:Middle Aged; D009419:Nerve Tissue Proteins / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide
chemical_list: D009419:Nerve Tissue Proteins; C492357:SHANK3 protein, human