![]() ![]() Multiple family-based case-series and case–control studies around the world have identified common genetic variants that account for a portion of our understanding of ASD. The identification of common genetic variants associated with the etiology of ASD has increasingly been used as a strategy to understand the mechanisms underlying this condition. Increasing evidence suggests that the bulk of genetic risk associated with ASD may be due to single nucleotide polymorphisms (SNPs) and copy number variants (CNVs), rather than specific single-gene mutations or syndromic conditions, which constitute only approximately 5–15% of ASD cases. However, the specific genetic mechanisms that underlie this heritability are not yet fully understood. Several twin and family-based studies have shown that ASD is highly heritable. ConclusionsĪmong the biological processes that were examined, genes involved in synaptic integrity, neurotransmitter metabolism, and cell adhesion molecules were significantly involved in the development of autism.Īutism spectrum disorder (ASD) is a neurodevelopmental condition characterized by persistent deficits in social communication and interaction, in addition to various restrictive and repetitive behaviors. The enriched cellular component of the proteins encoded by the genes identified in this systematic review were the postsynaptic membrane and the cell junction. Major over-represented biological processes were social behavior, vocalization behavior, learning and memory. Enriched pathways in the over-representation analysis using the KEGG pathway database were mostly associated with neurotransmitter receptors and their subunits. Resultsġ77 studies and a gene set composed of 139 were included in this qualitative systematic review. We created a gene dataset of the genes involved in the pathogenesis of autism and performed an over-representation analysis to evaluate the biological functions and molecular pathways that may explain the associations between these variants and the development of ASD. In this systematic review, we describe the relationship between genetic variations and autism. Common genetic variation appears to play a key role in the development of this condition. Autism spectrum disorder (ASD) is a complex neurodevelopmental condition characterized by persistent deficits in social communication and interaction. ![]()
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