title: Association analysis of CNTNAP2 polymorphisms with autism in the Chinese Han population.
abstract: OBJECTIVE
  Autism is a neurodevelopmental disorder, and genetic factors play an important role in its pathogenesis. Earlier findings suggest the CNTNAP2 as a predisposition locus of autism, but no study has been carried out on the possible association of CNTNAP2 with autism in the Chinese Han population.
  
  
  METHODS
  In this study, three single nucleotide polymorphisms located within the CNTNAP2 were genotyped in 185 Chinese Han autistic families by polymerase chain reaction-restriction fragment length polymorphism analysis, followed by a transmission disequilibrium test.
  
  
  RESULTS
  The results show that a common noncoding variant (rs10500171) is associated with the increased risk for autism, and haplotype T-A (rs7794745- rs10500171, P=0.011) and haplotype A-T-A (rs10244837- rs7794745- rs10500171, P=0.032) also showed evidence of association.
  
  
  CONCLUSIONS
  The results of family-based association study suggested that the CNTNAP2 is a susceptibility gene of autism in the Chinese Han population.
authors.affiliation: State Key Lab of Medical Genetics, Central South University, Changsha, Hunan, China.
authors.forename: Xiaoping
authors.initials: X
authors.lastname: Li
authors.forename: Zhengmao
authors.initials: Z
authors.lastname: Hu
authors.forename: Yiqun
authors.initials: Y
authors.lastname: He
authors.forename: Zhimin
authors.initials: Z
authors.lastname: Xiong
authors.forename: Zhigao
authors.initials: Z
authors.lastname: Long
authors.forename: Yu
authors.initials: Y
authors.lastname: Peng
authors.forename: Fengxiao
authors.initials: F
authors.lastname: Bu
authors.forename: Jie
authors.initials: J
authors.lastname: Ling
authors.forename: Guanglei
authors.initials: G
authors.lastname: Xun
authors.forename: Xiaoyun
authors.initials: X
authors.lastname: Mo
authors.forename: Qian
authors.initials: Q
authors.lastname: Pan
authors.forename: Jingping
authors.initials: J
authors.lastname: Zhao
authors.forename: Kun
authors.initials: K
authors.lastname: Xia
mesh_terms: D044466:Asian People / Q000235:genetics*; D001321:Autistic Disorder / Q000235:genetics*; D002681:China; D005006:Ethnicity / Q000235:genetics*; D005190:Family; D005260:Female; D056726:Genetic Association Studies; D005819:Genetic Markers; D020022:Genetic Predisposition to Disease; D006801:Humans; D015810:Linkage Disequilibrium / Q000235:genetics; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D009419:Nerve Tissue Proteins / Q000235:genetics*; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*
chemical_list: C403049:CNTNAP2 protein, human; D005819:Genetic Markers; D008565:Membrane Proteins; D009419:Nerve Tissue Proteins