Related Experiment Video
Updated: Oct 17, 2025

Author Spotlight: Exploring Autism Spectrum Disorder Symptoms in Fruit Flies — Genetic Models and Behavioral Tests
Published on: September 6, 2024
A systematic review of common genetic variation and biological pathways in autism spectrum disorder
Diego Alejandro Rodriguez-Gomez1, Danna Paola Garcia-Guaqueta1, Jesús David Charry-Sánchez1
1Neuroscience Research Group (NeURos), NeuroVitae Center for Neuroscience, School of Medicine and Health Sciences, Universidad del Rosario, Carrera 24 No. 63C-69, 111221, Bogotá D.C., Colombia.
Background:
Autism spectrum disorder (ASD) is a complex neurodevelopmental condition characterized by persistent deficits in social communication and interaction. Common genetic variation appears to play a key role in the development of this condition. In this systematic review, we describe the relationship between genetic variations and autism. 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.
Results:
177 studies and a gene set composed of 139 were included in this qualitative systematic review. Enriched pathways in the over-representation analysis using the KEGG pathway database were mostly associated with neurotransmitter receptors and their subunits. Major over-represented biological processes were social behavior, vocalization behavior, learning and memory. The enriched cellular component of the proteins encoded by the genes identified in this systematic review were the postsynaptic membrane and the cell junction.
Conclusions:
Among 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.
Related Concept Videos
Autism Spectrum Disorder
These core symptoms manifest differently among individuals, ranging from mild to severe. The disorder's complexity extends beyond its clinical presentation, encompassing a diverse range of biological, cognitive, and sociocultural influences.
Genome-wide Association Studies-GWAS
GWAS does not require the identification of the target gene involved in...
Behavioral Genetics and Its Designs
The primary methodologies used in behavior genetics include family studies, twin studies, and adoption studies, each providing unique...
Comparing Copy Number Variations and SNPs
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
Human Genetics
The complex relationship between genetics and psychology is observable through common biological components such...
Single Nucleotide Polymorphisms-SNPs

