Immunogenetic aspects of autism spectrum disorders

Abstract

Background: Autism spectrum disorders (ASD) are highly heritable disorders from all neurodevelopmental conditions in pediatrics caused by genetic and environmental factors. ASD has polygenic model of inheritance. Multiple factors have been implicated in its pathogenesis such as: genetic predisposition and environmental agents. Objective: To review immunogenetic factors that underlies the pathogenesis of autism spectrum disorders and their contribution to disorder outcome. Method: A review of literature on immunogenetics of ASD was conducted. This is web based research. Data used in this paper are taken from the following data bases: PubMed and Google Scholar. Key words were autism, immune genes and immunogenetics. Results: Research has revealed associations between ASD and immune genes located in the human leukocyte antigen (HLA) which is located at 6p chromosome. Studies have shown an association for classical MHC class I, II and III alleles and ASD. The HLA genes/haplotypes can also be involved in immune dysfunction and autoimmune diseases. It is now becoming apparent that many of the non-antigen-presenting HLA genes make significant contributions to autoimmune diseases. It has been showed that children with autism often have associations with HLA genes/haplotypes, suggesting an underlying dysregulation of the immune system mediated by HLA genes. Immune disturbances in ASD may involve HLA and related genes in genetic and epigenetic mechanisms. Macedonian study demonstrated the association of HLAC*03 and HLA-DRB1*01 alleles in children with ASD. Conclusions: Immune disturbances in ASD may involve HLA and related genes in genetic and epigenetic mechanisms.