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A common genetic variant in the neurexin superfamily member CNTNAP2 increases familial risk of autism.

Autism is a childhood neuropsychiatric disorder that, despite exhibiting high heritability, has largely eluded efforts to identify specific genetic variants underlying its etiology. We performed a two-stage genetic study in which genome-wide linkage and family-based association mapping was followed up by association and replication studies in an independent sample. We identified a common polymorphism in contactin-associated protein-like 2 (CNTNAP2), a member of the neurexin superfamily, that is significantly associated with autism susceptibility. Importantly, the genetic variant displays a parent-of-origin and gender effect recapitulating the inheritance of autism.

Pubmed ID: 18179894 RIS Download

Mesh terms: Autistic Disorder | Child | Female | Genetic Predisposition to Disease | Genome, Human | Humans | Male | Membrane Proteins | Nerve Tissue Proteins | Oligonucleotide Array Sequence Analysis

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Associated grants

  • Agency: NIMH NIH HHS, Id: MH64547
  • Agency: NIMH NIH HHS, Id: MH55284
  • Agency: NIMH NIH HHS, Id: R01 MH061009
  • Agency: NIMH NIH HHS, Id: R01 MH060007
  • Agency: NIMH NIH HHS, Id: MH52708
  • Agency: NIMH NIH HHS, Id: MH00219
  • Agency: NIMH NIH HHS, Id: R01 MH064547
  • Agency: NIMH NIH HHS, Id: R01 MH055284
  • Agency: NIMH NIH HHS, Id: MH39437
  • Agency: NIMH NIH HHS, Id: MH55135
  • Agency: NIMH NIH HHS, Id: MH00980
  • Agency: NIMH NIH HHS, Id: MH61009
  • Agency: NIMH NIH HHS, Id: MH60007

Comparative Toxicogenomics Database (Data, Disease Annotation)

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