학술논문
Association analysis of the NrCAM gene in autism and in subsets of families with severe obsessive–compulsive or self-stimulatory behaviors
Document Type
Article
Author
Source
Psychiatric Genetics; December 2006, Vol. 16 Issue: 6 p251-257, 7p
Subject
Language
ISSN
09558829; 14735873
Abstract
An autism susceptibility locus (AUTS1, MIM608636) has been identified in chromosome 7q31. NrCAM is a candidate gene for AUTS1 because it is expressed in the brain and encodes a receptor involved in nervous system development. Polymorphisms in NrCAM have been reported to be associated with autism susceptibility and with substance abuse, implicating NrCAM in reward circuitry. Self-stimulatory, perseverative behavior in autism might be due to defects in reward circuitry. In addition, models of drug addiction have also borrowed from models of obsessive–compulsive behavior designed to reduce anxiety. Thus, our goals were to replicate previous associations of NrCAM with autism, making use of a large cohort, and to clarify whether NrCAM was associated with a specific endophenotype of autism in the repetitive behaviors and stereotyped interests domains.