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Autism Spectrum Disorder

Autism Spectrum Disorder

Autism spectrum disorder (ASD) is a neurodevelopmental condition marked by persistent deficits in social communication and interaction alongside restrictive and repetitive behaviors or interests. ASD is sometimes accompanied by intellectual impairment.
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.

Epistasis Analysis

Epistasis Analysis

Although Mendel chose seven unrelated traits in peas to study gene segregation, most traits involve multiple gene interactions that create a spectrum of phenotypes. When the interaction of various genes or alleles at different locations influences a phenotype, this is called epistasis. Epistasis often involves one gene masking or interfering with the expression of another (antagonistic epistasis). Epistasis often occurs when different genes are part of the same biochemical pathway. The...

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Updated: Sep 6, 2025

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

Published on: June 15, 2011

Discovery of eQTL Alleles Associated with Autism Spectrum Disorder: A Case-Control Study.

Allison R Hickman¹, Bradley Selee², Rini Pauly³

¹Genetics and Biochemistry Department, Clemson University, Clemson, SC, 29634, USA.

Journal of Autism and Developmental Disorders

|June 23, 2022

Summary

Researchers identified novel DNA variants linked to gene expression in Autism Spectrum Disorder (ASD). These eQTLs may serve as biomarkers for ASD

Keywords:

Autism spectrum disorder Classification Neural network eQTLs

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Area of Science:

Neuroscience
Genetics
Biomarker Discovery

Background:

Autism Spectrum Disorder (ASD) is a neurodevelopmental condition with complex genetic underpinnings.
Existing genetic associations explain only a portion of ASD cases.
Identifying novel genetic factors influencing gene expression in ASD is crucial.

Purpose of the Study:

To investigate expression quantitative trait loci (eQTL)-associated DNA variants with differential allele distributions in ASD.
To identify potential biomarkers for ASD through genetic analysis.

Main Methods:

Analysis of DNA variants and their association with gene expression (eQTLs) in individuals with ASD.
Comparison of allele distributions between ASD-affected individuals and controls using data from the SPARK project.
Identification of tissue-specific eQTLs and their location within regulatory regions.

Main Results:

Thirty significant DNA variants associated with 174 tissue-specific eQTLs were identified in ASD individuals.
Several identified variants are located in brain-specific regulatory regions.
These variants showed significant associations with altered gene expression in the brain.

Conclusions:

eQTL-associated DNA variants represent a new class of potential biomarkers for ASD.
These biomarkers may influence various brain and non-brain phenotypic traits observed in ASD.
Further research into these eQTLs could enhance understanding and treatment of ASD.