Introducing a genomic risk architecture for autism spectrum disorder.

Romisa Moslemi,1,*

1. Science faculty, Department of Biology, Central Tehran Branch, Islamic Azad University.



Autism spectrum disorder (asd) contains broad range of conditions such as poor social skills, deficiency of immune system, gastrointestinal obstacles, and speech difficulties, etc. the diagnosis rate of asd is growing in industrialized countries rapidly. therefore, different etiological aspects of this disorder have been the research target of many scientist globally. in this article, different genome wide association studies (gwas) have been reviewed and the results were analyzed from system biology point of view. finally, a new set of genes has been proposed as a new risk architecture to detect the disease in newborn children


In order to increase the confidence of this study, the results of all gwas studies related to autism and every paper with autism genetic keyword have been gathered and reviewed. after data gathering and extraction from different studies, a reliability score has been given to every candidate gene. then, a novel bioinformatic pipeline has been designed to analyze and find the genes with common feature such as similarity in interactions, functional domain, biochemical pathways, expression regulatory process, or same biological process, and etc.. finally, selected genes have been sorted based on reliability and relativity scores


After analyzing all candidate genes through the novel pipeline, 56 genes have been selected as new risk factors of asd. different mutations in these genes could cause neurological disfunctions, immune deficiencies, optic disabilities, and etc.. additionally, all the genes have been divided in two different group based on kind of mutation (somatic or germline).


Utilizing proposed risk architecture, detection of asd in early months of pregnancy could become a reality. additionally, we propose more molecular studies are necessary to finalized this detection method.


Autism spectrum disorder, asd, detection, gwas