Dataset Information


Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene.

ABSTRACT: Autism is a genetically complex neurodevelopmental syndrome in which language deficits are a core feature. We describe results from two complimentary approaches used to identify risk variants on chromosome 7 that likely contribute to the etiology of autism. A two-stage association study tested 2758 SNPs across a 10 Mb 7q35 language-related autism QTL in AGRE (Autism Genetic Resource Exchange) trios and found significant association with Contactin Associated Protein-Like 2 (CNTNAP2), a strong a priori candidate. Male-only containing families were identified as primarily responsible for this association signal, consistent with the strong male affection bias in ASD and other language-based disorders. Gene-expression analyses in developing human brain further identified CNTNAP2 as enriched in circuits important for language development. Together, these results provide convergent evidence for involvement of CNTNAP2, a Neurexin family member, in autism, and demonstrate a connection between genetic risk for autism and specific brain structures.


PROVIDER: S-EPMC2253955 | BioStudies | 2008-01-01

REPOSITORIES: biostudies

Similar Datasets

2016-01-01 | S-EPMC5104938 | BioStudies
2010-01-01 | S-EPMC3065863 | BioStudies
2008-01-01 | S-EPMC2253968 | BioStudies
2018-01-01 | S-EPMC6324819 | BioStudies
2020-01-01 | S-EPMC7518065 | BioStudies
| S-EPMC6508520 | BioStudies
2012-01-01 | S-EPMC3447220 | BioStudies
2017-01-01 | S-EPMC5448439 | BioStudies
2010-01-01 | S-EPMC2941042 | BioStudies
2015-01-01 | S-EPMC4369114 | BioStudies