Related Experiment Video
Updated: Jun 5, 2026
10:17
An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations
Published on: November 3, 2010
Variants in several genomic regions associated with asperger disorder
D Salyakina1, D Q Ma, J M Jaworski
1John P Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida 33136, USA.
Summary
This study investigated genetic risk factors for Asperger disorder (ASP), a form of autism spectrum disorder (ASD). Genome-wide association studies identified novel genetic regions for ASP, suggesting shared and unique genetic factors between ASP and ASD.
Area of Science:
- Genetics
- Neuroscience
- Developmental Disorders
Background:
- Asperger disorder (ASP) is a subtype of autism spectrum disorder (ASD).
- ASP is characterized by the absence of significant cognitive and language delays.
- Genetic heterogeneity poses challenges in identifying autism genetic risk factors.
Purpose of the Study:
- To investigate the role of common genetic variation in ASP.
- To identify specific genetic risk factors associated with the ASP phenotype.
- To determine if ASP shares genetic risk factors with broader ASD.
Main Methods:
- Genome-wide association study (GWAS) conducted on 124 ASP families (discovery) and 110 ASP families (validation).
- Prioritization of top 100 association results using a ranking strategy.
- Comparison of identified regions with previously reported linkage regions for ASP and ASD.
Main Results:
- Novel associated regions identified on chromosomes 5q21.1 and 15q22.1-q22.2.
- Significant associations found in regions 3p14.2, 3q25-26, and 3p23, overlapping with previously reported Finnish ASP linkage regions.
- Eight association regions overlapped with known ASD linkage areas.
Conclusions:
- Asperger disorder shares genetic risk factors with autism spectrum disorder.
- ASP also possesses unique genetic risk factors distinct from broader ASD.
- Common genetic variations play a role in the etiology of ASP.
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Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
GWAS does not require the identification of the target gene involved in...
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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%...
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The complex relationship between genetics and psychology is observable through common biological components such...
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