Discovery of eQTL Alleles Associated with Autism Spectrum Disorder: A Case–Control Study.
Saved in:
| Title: | Discovery of eQTL Alleles Associated with Autism Spectrum Disorder: A Case–Control Study. |
|---|---|
| Authors: | Hickman, Allison R., Selee, Bradley, Pauly, Rini, Husain, Benafsh, Hang, Yuqing, Feltus, Frank Alex |
| Source: | Journal of Autism & Developmental Disorders. Sep2023, Vol. 53 Issue 9, p3595-3612. 18p. 2 Diagrams, 4 Charts, 4 Graphs. |
| Subjects: | Genetics of autism, Brain, Alleles, Case-control method, Race, Fisher exact test, Gene expression, Sex distribution, Genotypes, Genetic markers, Descriptive statistics, Artificial neural networks, Secondary analysis |
| Abstract: | Autism Spectrum Disorder (ASD) is a complex neurodevelopmental disorder characterized by challenges in social communication as well as repetitive or restrictive behaviors. Many genetic associations with ASD have been identified, but most associations occur in a fraction of the ASD population. Here, we searched for eQTL-associated DNA variants with significantly different allele distributions between ASD-affected and control. Thirty significant DNA variants associated with 174 tissue-specific eQTLs from ASD individuals in the SPARK project were identified. Several significant variants fell within brain-specific regulatory regions or had been associated with a significant change in gene expression in the brain. These eQTLs are a new class of biomarkers that could control the myriad of brain and non-brain phenotypic traits seen in ASD-affected individuals. [ABSTRACT FROM AUTHOR] |
| Copyright of Journal of Autism & Developmental Disorders is the property of Springer Nature and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.) | |
| Database: | Psychology and Behavioral Sciences Collection |
|
Full text is not displayed to guests.
Login for full access.
|
|
| Abstract: | Autism Spectrum Disorder (ASD) is a complex neurodevelopmental disorder characterized by challenges in social communication as well as repetitive or restrictive behaviors. Many genetic associations with ASD have been identified, but most associations occur in a fraction of the ASD population. Here, we searched for eQTL-associated DNA variants with significantly different allele distributions between ASD-affected and control. Thirty significant DNA variants associated with 174 tissue-specific eQTLs from ASD individuals in the SPARK project were identified. Several significant variants fell within brain-specific regulatory regions or had been associated with a significant change in gene expression in the brain. These eQTLs are a new class of biomarkers that could control the myriad of brain and non-brain phenotypic traits seen in ASD-affected individuals. [ABSTRACT FROM AUTHOR] |
|---|---|
| ISSN: | 01623257 |
| DOI: | 10.1007/s10803-022-05631-x |
