Normal allele: AA
Associated with an increased risk of autism based on a study of 148 sick children from families with two other children with autism. Causes changes in fronto-occipital circuitry and cerebellar structure associated with autism.
Polymorphism rs7794745 is related to topics like this:
Research and publications:
19456320 A genome-wide association study of autism reveals a common novel risk locus at 5p14.1.
20414140 Association analysis of CNTNAP2 polymorphisms with autism in the Chinese Han population.
20838614 Traits contributing to the autistic spectrum.
21165691 Investigation of dyslexia and SLI risk variants in reading- and language-impaired subjects.
21310003 CNTNAP2 variants affect early language development in the general population.
22017886 Autism risk assessment in siblings of affected children using sex-specific genetic scores.
22105624 The genetics of attention deficit/hyperactivity disorder in adults, a review.
22365836 What does CNTNAP2 reveal about autism spectrum disorder?
22843504 Individual common variants exert weak effects on the risk for autism spectrum disorders.
24147096 Defining the contribution of CNTNAP2 to autism susceptibility.
26322220 A comprehensive meta-analysis of common genetic variants in autism spectrum conditions.
28284582 The association of CNTNAP2 rs7794745 gene polymorphism and autism in Iranian population.