RGD Reference Report - A common genetic variant in the neurexin superfamily member CNTNAP2 increases familial risk of autism. - Rat Genome Database

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

Authors: Arking, Dan E  Cutler, David J  Brune, Camille W  Teslovich, Tanya M  West, Kristen  Ikeda, Morna  Rea, Alexis  Guy, Moltu  Lin, Shin  Cook, Edwin H  Chakravarti, Aravinda 
Citation: Arking DE, etal., Am J Hum Genet. 2008 Jan;82(1):160-4. doi: 10.1016/j.ajhg.2007.09.015.
RGD ID: 13450909
Pubmed: PMID:18179894   (View Abstract at PubMed)
PMCID: PMC2253968   (View Article at PubMed Central)
DOI: DOI:10.1016/j.ajhg.2007.09.015   (Journal Full-text)

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.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
autistic disorder susceptibilityIAGP 13450909DNA:SNP: :rs7794745(human)RGD 
autistic disorder susceptibilityISOCNTNAP2 (Homo sapiens)13450909; 13450909DNA:SNP: :rs7794745(human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Cntnap2  (contactin associated protein 2)

Genes (Mus musculus)
Cntnap2  (contactin associated protein-like 2)

Genes (Homo sapiens)
CNTNAP2  (contactin associated protein 2)


Additional Information