title: A common genetic variant in the neurexin superfamily member CNTNAP2 increases familial risk of autism.
abstract: 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.
authors.affiliation: McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
authors.forename: Dan E
authors.initials: DE
authors.lastname: Arking
authors.forename: David J
authors.initials: DJ
authors.lastname: Cutler
authors.forename: Camille W
authors.initials: CW
authors.lastname: Brune
authors.forename: Tanya M
authors.initials: TM
authors.lastname: Teslovich
authors.forename: Kristen
authors.initials: K
authors.lastname: West
authors.forename: Morna
authors.initials: M
authors.lastname: Ikeda
authors.forename: Alexis
authors.initials: A
authors.lastname: Rea
authors.forename: Moltu
authors.initials: M
authors.lastname: Guy
authors.forename: Shin
authors.initials: S
authors.lastname: Lin
authors.forename: Edwin H
authors.initials: EH
authors.lastname: Cook
authors.forename: Aravinda
authors.initials: A
authors.lastname: Chakravarti
mesh_terms: D001321:Autistic Disorder / Q000235:genetics*; D002648:Child; D005260:Female; D020022:Genetic Predisposition to Disease; D015894:Genome, Human; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009419:Nerve Tissue Proteins / Q000235:genetics*; D020411:Oligonucleotide Array Sequence Analysis
chemical_list: C403049:CNTNAP2 protein, human; D008565:Membrane Proteins; D009419:Nerve Tissue Proteins