Jornal de Genômica Clínica e Médica

Genetic Markers Association in Autism Spectrum Disorder

Abstract

Nadra E Elamin and Laila Y AL-Ayadhi

Although the etiology of autism spectrum disorder (ASD) is still unclear, multiple factors have been suggested to be involved in its pathogenesis. There is a strong evidence for multiple interacting genetic factors as the main cause of autism. Hundreds of genes and genetic mutations that are involved in autism development were identified, and thus serve as useful genetic markers for identification of autism. Those genes play a key role in brain development, or may code for immune proteins. Numerous studies have suggested that autism can be inherited based on earlier twins studies which showed that monozygotic (MZ) twins had higher concordance rates than dizygotic (DZ) twins for ASDs. In this review we consider the genetic factors that underlie the pathogenesis of autism and their contribution to the disease outcome. In conclusion, candidate genes studies will highlight the role of interaction between innate immunity and neuronal activity in the etiology of autism, and it may lead to earlier diagnosis and behavioral intervention which improves ASD subjects outcomes.