title: Family-based association study of ZNF533, DOCK4 and IMMP2L gene polymorphisms linked to autism in a northeastern Chinese Han population.
abstract: OBJECTIVE
  A study in a Caucasian population has identified two single-nucleotide polymorphisms (SNPs) in ZNF533, one in DOCK4, and two in IMMP2L, which were all significantly associated with autism. They are located in AUTS1 and AUTS5, which have been identified as autism susceptibility loci in several genome-wide screens. The present study aimed to investigate whether ZNF533, DOCK4, and IMMP2L genes are also associated with autism in a northeastern Chinese Han population.
  
  
  METHODS
  We performed a similar association study using families with three individuals (one autistic child and two unaffected parents). A family-based transmission disequilibrium test (TDT) was used to analyze the results.
  
  
  RESULTS
  There were significant associations between autism and the two SNPs of ZNF533 gene (rs11885327: χ(2)=4.5200, P=0.0335; rs1964081: χ(2)=4.2610, P=0.0390) and the SNP of DOCK4 gene (rs2217262: χ(2)=5.3430, P=0.0208).
  
  
  CONCLUSIONS
  Our data suggest that ZNF533 and DOCK4 genes are linked to a predisposition to autism in the northeastern Chinese Han population.
authors.affiliation: Department of Children's and Adolescent Health, Public Health College of Harbin Medical University, Harbin 150081, China; Research Center for Child Mental Development, University of Fukui, 23-3 Matsuoka-Shimoaizuki, Eiheiji-cho, Fukui 910-1193, Japan.
authors.forename: Shuang
authors.initials: S
authors.lastname: Liang
authors.forename: Xue-lai
authors.initials: XL
authors.lastname: Wang
authors.forename: Ming-yang
authors.initials: MY
authors.lastname: Zou
authors.forename: Han
authors.initials: H
authors.lastname: Wang
authors.forename: Xue
authors.initials: X
authors.lastname: Zhou
authors.forename: Cai-hong
authors.initials: CH
authors.lastname: Sun
authors.forename: Wei
authors.initials: W
authors.lastname: Xia
authors.forename: Li-jie
authors.initials: LJ
authors.lastname: Wu
authors.forename: Takashi X
authors.initials: TX
authors.lastname: Fujisawa
authors.forename: Akemi
authors.initials: A
authors.lastname: Tomoda
mesh_terms: D000293:Adolescent; D000328:Adult; D044466:Asian People / Q000235:genetics; D001321:Autistic Disorder / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D002681:China; D004247:DNA / Q000737:chemistry / Q000235:genetics; D010450:Endopeptidases / Q000235:genetics*; D005190:Family; D005260:Female; D020690:GTPase-Activating Proteins / Q000235:genetics*; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008297:Male; D009687:Nuclear Proteins; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D012097:Repressor Proteins / Q000235:genetics*
chemical_list: C510122:DOCK4 protein, human; D020690:GTPase-Activating Proteins; D009687:Nuclear Proteins; D012097:Repressor Proteins; C555943:ZNF385B protein, human; D004247:DNA; D010450:Endopeptidases; C425070:IMMP2L protein, human