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

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,...

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Autores principales: Hickman, Allison R., Selee, Bradley, Pauly, Rini, Husain, Benafsh, Hang, Yuqing, Feltus, Frank Alex
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer US 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10465380/
https://www.ncbi.nlm.nih.gov/pubmed/35739433
http://dx.doi.org/10.1007/s10803-022-05631-x
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author Hickman, Allison R.
Selee, Bradley
Pauly, Rini
Husain, Benafsh
Hang, Yuqing
Feltus, Frank Alex
author_facet Hickman, Allison R.
Selee, Bradley
Pauly, Rini
Husain, Benafsh
Hang, Yuqing
Feltus, Frank Alex
author_sort Hickman, Allison R.
collection PubMed
description 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. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1007/s10803-022-05631-x.
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spelling pubmed-104653802023-08-31 Discovery of eQTL Alleles Associated with Autism Spectrum Disorder: A Case–Control Study Hickman, Allison R. Selee, Bradley Pauly, Rini Husain, Benafsh Hang, Yuqing Feltus, Frank Alex J Autism Dev Disord Original Paper 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. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1007/s10803-022-05631-x. Springer US 2022-06-23 2023 /pmc/articles/PMC10465380/ /pubmed/35739433 http://dx.doi.org/10.1007/s10803-022-05631-x Text en © The Author(s) 2022 https://creativecommons.org/licenses/by/4.0/Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) .
spellingShingle Original Paper
Hickman, Allison R.
Selee, Bradley
Pauly, Rini
Husain, Benafsh
Hang, Yuqing
Feltus, Frank Alex
Discovery of eQTL Alleles Associated with Autism Spectrum Disorder: A Case–Control Study
title Discovery of eQTL Alleles Associated with Autism Spectrum Disorder: A Case–Control Study
title_full Discovery of eQTL Alleles Associated with Autism Spectrum Disorder: A Case–Control Study
title_fullStr Discovery of eQTL Alleles Associated with Autism Spectrum Disorder: A Case–Control Study
title_full_unstemmed Discovery of eQTL Alleles Associated with Autism Spectrum Disorder: A Case–Control Study
title_short Discovery of eQTL Alleles Associated with Autism Spectrum Disorder: A Case–Control Study
title_sort discovery of eqtl alleles associated with autism spectrum disorder: a case–control study
topic Original Paper
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10465380/
https://www.ncbi.nlm.nih.gov/pubmed/35739433
http://dx.doi.org/10.1007/s10803-022-05631-x
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